ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1446C>T (p.Ala482=)

gnomAD frequency: 0.00001  dbSNP: rs770702512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443283 SCV001646252 likely benign DiGeorge syndrome 2019-08-30 criteria provided, single submitter clinical testing

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