ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.990+12T>A

dbSNP: rs144346949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301665 SCV000409530 uncertain significance Pitt-Hopkins syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000301665 SCV002435093 likely benign Pitt-Hopkins syndrome 2025-01-25 criteria provided, single submitter clinical testing

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