ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val)

dbSNP: rs781392583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734294 SCV000862424 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485937 SCV002789072 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2022-05-16 criteria provided, single submitter clinical testing

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