ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1966G>A (p.Gly656Ser)

gnomAD frequency: 0.00001  dbSNP: rs1317504677
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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 RCV001034281 SCV001197619 likely benign Pitt-Hopkins syndrome 2023-10-22 criteria provided, single submitter clinical testing

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