ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.501C>T (p.Ser167=)

gnomAD frequency: 0.00088  dbSNP: rs75947625
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621384 SCV000735250 benign Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001566981 SCV001790582 likely benign not provided 2021-07-27 criteria provided, single submitter clinical testing
Invitae RCV001566981 SCV002492342 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230557 SCV003929124 benign not specified 2023-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917977 SCV004736552 benign TBX20-related disorder 2024-01-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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