ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2064A>G (p.Gly688=)

gnomAD frequency: 0.00038  dbSNP: rs753871660
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Total submissions: 4
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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 RCV000214534 SCV000270077 likely benign not specified 2015-02-27 criteria provided, single submitter clinical testing p.Gly688Gly in exon 25 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loc ated within the splice consensus sequence. It has been identified in 16/51320 E uropean chromosomes and 4/7254 African chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148092088).
GeneDx RCV001697216 SCV000534897 likely benign not provided 2021-03-07 criteria provided, single submitter clinical testing
Invitae RCV001697216 SCV002436078 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000214534 SCV004813350 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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