ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)

dbSNP: rs1672165764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004542094 SCV004800293 uncertain significance COL11A1-related disorder 2024-02-06 criteria provided, single submitter clinical testing The COL11A1 c.484G>A variant is predicted to result in the amino acid substitution p.Gly162Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723385 SCV001957245 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723385 SCV001965382 likely pathogenic not provided no assertion criteria provided clinical testing

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