ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1377G>C (p.Ala459=)

gnomAD frequency: 0.00001  dbSNP: rs771540171
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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 RCV001463999 SCV001667958 likely benign DiGeorge syndrome 2018-01-24 criteria provided, single submitter clinical testing

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