ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1608C>T (p.Asp536=)

gnomAD frequency: 0.00003  dbSNP: rs370405835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002096075 SCV002391899 likely benign Pitt-Hopkins syndrome 2023-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391233 SCV002703691 likely benign Inborn genetic diseases 2019-07-16 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.
CeGaT Center for Human Genetics Tuebingen RCV003418376 SCV004143132 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing TCF4: BP4, BP7

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