ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.186C>G (p.Thr62=)

gnomAD frequency: 0.00001  dbSNP: rs773764939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774285 SCV000907987 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500031 SCV001704808 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406695 SCV002722298 likely benign Cardiovascular phenotype 2022-10-09 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.
All of Us Research Program, National Institutes of Health RCV001500031 SCV004841475 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-06-17 criteria provided, single submitter clinical testing

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