ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.2299C>T (p.Arg767Trp)

dbSNP: rs2034289029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762942 SCV001988944 uncertain significance not provided 2019-04-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003125893 SCV003803864 uncertain significance Autism spectrum disorder 2022-04-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV004762176 SCV005368325 uncertain significance Intellectual disability, X-linked, syndromic 33 2024-08-21 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP2,PP3

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