ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.807C>T (p.Ser269=)

gnomAD frequency: 0.00008  dbSNP: rs143896861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431030 SCV000529116 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866996 SCV001008176 likely benign Pitt-Hopkins syndrome 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422409 SCV004143138 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing TCF4: BP4

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