ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp)

dbSNP: rs760183638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335453 SCV001528604 uncertain significance Floating-Harbor syndrome 2018-03-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002476553 SCV002800107 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-08-30 criteria provided, single submitter clinical testing
GeneDx RCV003223723 SCV003919178 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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