ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.636C>T (p.Gly212=)

gnomAD frequency: 0.00001  dbSNP: rs779173153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820840 SCV000961570 likely benign DiGeorge syndrome 2023-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169015 SCV003889741 likely benign Cardiovascular phenotype 2023-01-20 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.

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