ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)

dbSNP: rs2151300418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002204553 SCV002496139 pathogenic Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2020-11-06 criteria provided, single submitter clinical testing ACMG categories: PVS1,PS5,PM2

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