ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.834C>G (p.Gly278=)

gnomAD frequency: 0.00016  dbSNP: rs371075332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697199 SCV000825796 likely benign Primary dilated cardiomyopathy 2023-10-06 criteria provided, single submitter clinical testing
GeneDx RCV001775967 SCV002012576 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440486 SCV002680567 likely benign Cardiovascular phenotype 2020-12-31 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.

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