ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.39C>T (p.Ala13=)

gnomAD frequency: 0.00002  dbSNP: rs773244265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861344 SCV001001632 likely benign Developmental and epileptic encephalopathy, 9 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001655611 SCV001868041 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372395 SCV002625300 likely benign Inborn genetic diseases 2017-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003908156 SCV004719918 likely benign PCDH19-related condition 2019-06-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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