ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)

gnomAD frequency: 0.00001  dbSNP: rs1016959427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001263440 SCV001439282 likely benign Oculomotor apraxia 2020-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001760308 SCV001991652 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001880058 SCV002188242 likely benign Pitt-Hopkins syndrome 2022-08-23 criteria provided, single submitter clinical testing

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