ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)

dbSNP: rs886038791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242757 SCV000317738 uncertain significance Cardiovascular phenotype 2012-09-26 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV000813176 SCV000953521 likely benign DiGeorge syndrome 2023-12-01 criteria provided, single submitter clinical testing

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