ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1348A>G (p.Met450Val)

gnomAD frequency: 0.00002  dbSNP: rs1466719628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308029 SCV001497462 likely benign Pitt-Hopkins syndrome 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV002508306 SCV002817844 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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