ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu)

gnomAD frequency: 0.00150  dbSNP: rs148092370
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226062 SCV000289535 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245207 SCV000318812 benign Cardiovascular phenotype 2016-06-15 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 RCV000422509 SCV000528231 benign not specified 2017-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV002494652 SCV002801598 benign Glucocorticoid deficiency 5 2021-10-15 criteria provided, single submitter clinical testing

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