ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser)

gnomAD frequency: 0.00001  dbSNP: rs759754956
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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 RCV001522872 SCV001732497 benign Pitt-Hopkins syndrome 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000645475 SCV001805335 uncertain significance not provided 2020-09-01 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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