ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2335G>A (p.Ala779Thr)

gnomAD frequency: 0.00220  dbSNP: rs141913003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632912 SCV000754117 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528859 SCV003682839 likely benign Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV003945589 SCV004761590 likely benign CARD14-related disorder 2023-09-12 no assertion criteria provided 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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