ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro)

dbSNP: rs2047106597
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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 RCV001059274 SCV001223895 likely pathogenic Pitt-Hopkins syndrome 2021-08-24 criteria provided, single submitter clinical testing

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