ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.225G>A (p.Pro75=)

gnomAD frequency: 0.00034  dbSNP: rs369044150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617923 SCV000735795 likely benign Cardiovascular phenotype 2017-03-15 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.
GeneDx RCV001565888 SCV001789325 likely benign not provided 2019-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001565888 SCV002405275 benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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