ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.504C>T (p.Cys168=)

gnomAD frequency: 0.00006  dbSNP: rs752481782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862744 SCV001003292 likely benign Primary dilated cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336761 SCV002641861 likely benign Cardiovascular phenotype 2019-03-10 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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