ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.399C>T (p.Asn133=)

dbSNP: rs2145828636
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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 RCV001494092 SCV001698741 likely benign DiGeorge syndrome 2021-01-17 criteria provided, single submitter clinical testing

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