ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.45C>T (p.Thr15=)

gnomAD frequency: 0.00010  dbSNP: rs759214983
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556504 SCV000638902 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771861 SCV000904582 likely benign Cardiomyopathy 2018-04-21 criteria provided, single submitter clinical testing
GeneDx RCV001613350 SCV001840338 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341323 SCV002637095 likely benign Cardiovascular phenotype 2019-06-25 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.
All of Us Research Program, National Institutes of Health RCV003999147 SCV004844477 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782434 SCV005395537 likely benign not specified 2024-09-09 criteria provided, single submitter clinical testing

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