ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2017-5T>G

gnomAD frequency: 0.00018  dbSNP: rs200523422
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000418538 SCV000228269 uncertain significance not provided 2015-02-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000222871 SCV000268897 benign not specified 2015-10-11 criteria provided, single submitter clinical testing c.2017-5T>G in intron 25 of COL11A2: This variant is not expected to have clinic al significance because it has been identified in 0.88% (133/15120) of South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs200523422).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418538 SCV000511840 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000418538 SCV000726610 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Invitae RCV000418538 SCV002402714 benign not provided 2021-11-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277379 SCV002567194 likely benign Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing

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