ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2899-9del

dbSNP: rs397517477
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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 RCV000039833 SCV000063524 benign not specified 2013-03-01 criteria provided, single submitter clinical testing c.2899-9delT in intron 39 of COL11A2: This variant is not expected to have clini cal significance because does not alter an amino acid residue, is not in the inv ariant -1/-2 positions of the splice consensus sequence, and has been identified in 1% (31/3296) of African Americans by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/).
Eurofins Ntd Llc (ga) RCV000039833 SCV000230528 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV001509763 SCV000572285 benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509763 SCV001716634 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509763 SCV003799199 benign not provided 2023-11-06 criteria provided, single submitter clinical testing

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