ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.96C>T (p.Ala32=)

gnomAD frequency: 0.00011  dbSNP: rs931429492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410362 SCV001612408 likely benign DiGeorge syndrome 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000949201 SCV001793023 likely benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363469 SCV002665206 likely benign Cardiovascular phenotype 2017-02-09 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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