ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.51C>T (p.Cys17=)

dbSNP: rs2145827460
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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 RCV002171500 SCV002471930 likely benign DiGeorge syndrome 2021-09-26 criteria provided, single submitter clinical testing

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