ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg)

dbSNP: rs76079250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247798 SCV000320464 benign Cardiovascular phenotype 2015-11-20 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001722379 SCV000529300 benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Invitae RCV000469152 SCV000557803 benign Primary dilated cardiomyopathy 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494795 SCV002794639 benign Glucocorticoid deficiency 5 2021-09-30 criteria provided, single submitter clinical testing

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