ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)

gnomAD frequency: 0.00061  dbSNP: rs138152469
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177798 SCV000229731 uncertain significance not provided 2015-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177798 SCV001043882 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967426 SCV004777424 likely benign SRCAP-related disorder 2019-04-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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