ClinVar Miner

Submissions for variant NM_005992.1(TBX1):c.131_133CGC[6] (p.Pro48dup) (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.
Invitae RCV000813176 SCV000953521 likely benign DiGeorge Syndrome 2020-11-14 criteria provided, single submitter clinical testing

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