ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.330A>C (p.Ser110=)

gnomAD frequency: 0.00016  dbSNP: rs780528611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503478 SCV000597417 likely benign not specified 2016-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316448 SCV000850091 likely benign Inborn genetic diseases 2016-07-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862407 SCV001002910 likely benign Pitt-Hopkins syndrome 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001527903 SCV001739050 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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