ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met)

gnomAD frequency: 0.00009  dbSNP: rs201837401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002211670 SCV002357597 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498206 SCV002804406 likely benign Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2022-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941350 SCV004749888 likely benign SRCAP-related disorder 2020-05-19 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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