ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.652-7T>C

gnomAD frequency: 0.00088  dbSNP: rs760697835
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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 RCV002021754 SCV002309665 likely benign not provided 2024-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538743 SCV004726061 likely benign COL11A1-related disorder 2022-08-21 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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