ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)

gnomAD frequency: 0.00001  dbSNP: rs372122122
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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 RCV002132991 SCV002445551 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486937 SCV002796878 likely benign Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2021-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543866 SCV004791283 likely benign COL11A1-related disorder 2023-12-27 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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