ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.993C>T (p.Tyr331=)

gnomAD frequency: 0.00001  dbSNP: rs755042745
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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 RCV001180925 SCV001345978 likely benign Cardiomyopathy 2019-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442067 SCV001645008 likely benign Arrhythmogenic right ventricular dysplasia 5 2019-03-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001442067 SCV004841593 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678978 SCV005176547 likely benign Cardiovascular phenotype 2024-04-25 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.

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