ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3025-23A>T

gnomAD frequency: 0.07912  dbSNP: rs55682104
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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 RCV000253856 SCV000308464 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582842 SCV001821613 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582841 SCV001821614 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582840 SCV001821615 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582839 SCV001821616 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711557 SCV001939993 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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