ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2115+7T>C

gnomAD frequency: 0.00185  dbSNP: rs186051366
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Total submissions: 5
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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 RCV000155072 SCV000204756 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 2115+7T>C in Intron 26 of COL11A2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.5% (19/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS).
GeneDx RCV001704128 SCV000517174 likely benign not provided 2018-11-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000155072 SCV000704973 benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001704128 SCV002405772 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001704128 SCV005225689 likely benign not provided criteria provided, single submitter not provided

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