ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp)

gnomAD frequency: 0.00002  dbSNP: rs556230791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000736101 SCV000864371 benign not specified 2017-07-17 criteria provided, single submitter clinical testing BS1, BS2, BP1; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and is a missense alteration in a gene for which primarily truncating variants are known to cause disease.
Fulgent Genetics, Fulgent Genetics RCV002493372 SCV002802348 likely benign Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-12-28 criteria provided, single submitter clinical testing

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