ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2295+37A>T

gnomAD frequency: 0.91369  dbSNP: rs2622867
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247628 SCV000308451 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834079 SCV000975847 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001582825 SCV001821626 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582824 SCV001821627 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582823 SCV001821628 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582822 SCV001821629 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing

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