ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1848C>A (p.Ala616=)

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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 RCV003121607 SCV003787587 likely benign Pitt-Hopkins syndrome 2022-07-29 criteria provided, single submitter clinical testing

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