ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn)

gnomAD frequency: 0.00002  dbSNP: rs773462232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755142 SCV001995995 uncertain significance not provided 2019-09-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002077195 SCV002332946 benign Pitt-Hopkins syndrome 2022-01-13 criteria provided, single submitter clinical testing

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