Batch queries can be done using pipe "|" as a separator between search terms. Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.
LOVD - Variant listings for PMS2_priors

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Patient data (#0025905)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 13
DNA change c.2225A>C   (View in UCSC Genome Browser)
RNA change -
Protein p.N742T
Custom PP2.1 score 0.996
MAPP score 13.69
MAPP/PP2 Prior P 0.7277
Reference Thompson et al., 2013
Template DNA
Technique SEQ
DB-ID PMS2_04917

1 entry in PMS2_priors

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Custom PP2.1 score Descending
Ascending
MAPP score Descending
Ascending
MAPP/PP2 Prior P Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown 13 c.2225A>C - p.N742T 0.996 13.69 0.7277 Thompson et al., 2013 DNA SEQ PMS2_04917