ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.500-18A>G

gnomAD frequency: 0.00001  dbSNP: rs751585776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616548 SCV000723287 likely benign not specified 2017-09-25 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 RCV002065311 SCV002438365 likely benign Pitt-Hopkins syndrome 2023-05-15 criteria provided, single submitter clinical testing

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