ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=)

gnomAD frequency: 0.00260  dbSNP: rs61746613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733021 SCV000861033 likely benign not specified 2018-05-17 criteria provided, single submitter clinical testing
Invitae RCV000911319 SCV001056384 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495008 SCV002797975 likely benign Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-09-14 criteria provided, single submitter clinical testing

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