ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.546C>T (p.Ala182=)

dbSNP: rs1035684349
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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 RCV001491527 SCV001696127 likely benign DiGeorge syndrome 2023-04-18 criteria provided, single submitter clinical testing

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