ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2584-5del

dbSNP: rs555657704
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222199 SCV000270079 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing c.2584-5delC in intron 34 of COL11A2: This variant is not expected to have clin ical significance because this variant has been identified in 0.21% (254/121798) of European chromosomes including 2 homozygotes by the Genome Aggregation Datab ase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs555657704). Furthermore, computational tools do not predict an impact to splicing.
Preventiongenetics, part of Exact Sciences RCV000222199 SCV000315348 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322709 SCV000462437 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379548 SCV000462438 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268722 SCV000462439 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326574 SCV000462440 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001579439 SCV000566588 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000222199 SCV000701767 likely benign not specified 2016-09-28 criteria provided, single submitter clinical testing
Invitae RCV001579439 SCV002394930 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579439 SCV002586110 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL11A2: BP4, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579439 SCV001807245 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579439 SCV001972169 likely benign not provided no assertion criteria provided clinical testing

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