ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly)

gnomAD frequency: 0.00081  dbSNP: rs150246733
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202654 SCV000258049 benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513908 SCV000610906 likely benign not provided 2017-05-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000202654 SCV000861067 benign not specified 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513908 SCV001094644 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513908 SCV004146260 benign not provided 2024-02-01 criteria provided, single submitter clinical testing SRCAP: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000513908 SCV005215788 likely benign not provided criteria provided, single submitter not provided

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