ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3168+41T>C

gnomAD frequency: 0.29091  dbSNP: rs1012282
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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 RCV000250815 SCV000308466 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582846 SCV001821608 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582845 SCV001821610 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582844 SCV001821611 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582843 SCV001821612 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001689833 SCV001906486 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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