ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.900G>A (p.Thr300=)

gnomAD frequency: 0.00006  dbSNP: rs140235564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586966 SCV000698480 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000640039 SCV000761627 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-11-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188906 SCV001356082 likely benign Cardiomyopathy 2019-02-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002444 SCV004846472 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984992 SCV005476537 likely benign Cardiovascular phenotype 2024-07-17 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.

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