ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1666-9T>G

gnomAD frequency: 0.00009  dbSNP: rs181999673
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Total submissions: 3
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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 RCV000610499 SCV000711371 benign not specified 2016-08-09 criteria provided, single submitter clinical testing c.1666-9T>G in intron 17 of COL11A2: This variant is not expected to have clinic al significance because it has been identified in 0.4% (33/8514) of East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs181999673).
Labcorp Genetics (formerly Invitae), Labcorp RCV001521877 SCV001731296 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001521877 SCV001779393 likely benign not provided 2021-08-05 criteria provided, single submitter clinical testing

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