ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.6495-8C>A

gnomAD frequency: 0.00994  dbSNP: rs75991082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514946 SCV000611080 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514946 SCV001104204 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742383 SCV005364940 benign SRCAP-related disorder 2024-03-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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