ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2656-28T>C

gnomAD frequency: 0.32791  dbSNP: rs1903787
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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 RCV000243560 SCV000308459 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582833 SCV001821617 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582832 SCV001821618 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582831 SCV001821619 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582830 SCV001821621 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001640519 SCV001855856 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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