ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)

gnomAD frequency: 0.00711  dbSNP: rs75125670
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732169 SCV000860081 benign not specified 2018-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959758 SCV001106682 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000959758 SCV002504372 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000959758 SCV004139121 benign not provided 2023-02-01 criteria provided, single submitter clinical testing SRCAP: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000959758 SCV005215795 likely benign not provided criteria provided, single submitter not provided

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