ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.483C>T (p.Phe161=)

gnomAD frequency: 0.00001  dbSNP: rs772842801
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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 RCV001188920 SCV001356104 likely benign Cardiomyopathy 2019-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069050 SCV002377266 likely benign Arrhythmogenic right ventricular dysplasia 5 2022-06-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002069050 SCV004841512 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678982 SCV005176536 likely benign Cardiovascular phenotype 2024-06-21 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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