ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4015-8T>C

gnomAD frequency: 0.00082  dbSNP: rs377001136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712308 SCV000535045 likely benign not provided 2021-03-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000438224 SCV000711003 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing c.4015-8T>C in intron 55 of COL11A2: This variant is not expected to have clinic al significance because a C>T/T>C change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. In a ddition, it has been identified in 0.3% (24/8124) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3770 01136).
Invitae RCV001712308 SCV002431824 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942454 SCV004757675 likely benign COL11A2-related condition 2021-01-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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