ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2611-19A>C

gnomAD frequency: 0.57301  dbSNP: rs11164649
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252063 SCV000308455 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252063 SCV000516212 benign not specified 2016-09-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521967 SCV001731408 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582829 SCV001821622 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582828 SCV001821623 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582827 SCV001821624 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582826 SCV001821625 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521967 SCV005286705 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000252063 SCV001740493 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000252063 SCV001808590 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252063 SCV001956804 benign not specified no assertion criteria provided clinical testing

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