ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1113G>A (p.Ser371=)

gnomAD frequency: 0.00003  dbSNP: rs148308964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503083 SCV000597414 likely benign not specified 2016-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000645482 SCV000767228 likely benign Pitt-Hopkins syndrome 2022-07-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000645482 SCV001283384 uncertain significance Pitt-Hopkins syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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