ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.264C>T (p.Asn88=)

gnomAD frequency: 0.00001  dbSNP: rs575321083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457218 SCV001661017 likely benign Primary dilated cardiomyopathy 2022-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453973 SCV002739028 likely benign Cardiovascular phenotype 2022-02-16 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.
CeGaT Center for Human Genetics Tuebingen RCV003457869 SCV004183954 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TXNRD2: BP4, BP7

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