ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.585C>G (p.Pro195=)

gnomAD frequency: 0.00019  dbSNP: rs201760306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704395 SCV000529319 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000477109 SCV000557810 likely benign Primary dilated cardiomyopathy 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356588 SCV002650265 likely benign Cardiovascular phenotype 2019-06-19 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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