ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.792G>A (p.Glu264=)

gnomAD frequency: 0.00001  dbSNP: rs755887906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002203030 SCV002484924 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533956 SCV004708303 likely benign COL11A1-related disorder 2021-05-25 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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