ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.519G>T (p.Pro173=)

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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 RCV003876775 SCV004681507 likely benign DiGeorge syndrome 2023-04-06 criteria provided, single submitter clinical testing

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