ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.651+16A>G

gnomAD frequency: 0.01555  dbSNP: rs116303092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245300 SCV000308485 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245300 SCV000729128 benign not specified 2016-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001522057 SCV001731518 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500890 SCV002808482 benign Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2021-07-30 criteria provided, single submitter clinical testing

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