ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.903C>T (p.Thr301=)

dbSNP: rs35695986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247540 SCV000318615 likely benign Cardiovascular phenotype 2016-09-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV000842503 SCV000984526 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV001398752 SCV001600527 likely benign Primary dilated cardiomyopathy 2023-11-10 criteria provided, single submitter clinical testing

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