ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4032+16A>G

gnomAD frequency: 0.00006  dbSNP: rs200202502
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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 RCV001520419 SCV001729513 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501829 SCV002813036 likely benign Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2022-03-17 criteria provided, single submitter clinical testing

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