ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)

gnomAD frequency: 0.00014  dbSNP: rs201583296
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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 RCV000943436 SCV001089382 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488021 SCV002795062 likely benign Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000943436 SCV005384695 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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