ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)

gnomAD frequency: 0.00001  dbSNP: rs1351190778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002048641 SCV002298436 likely benign not provided 2023-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529094 SCV004103760 uncertain significance COL11A1-related disorder 2023-09-20 criteria provided, single submitter clinical testing The COL11A1 c.5372A>G variant is predicted to result in the amino acid substitution p.Gln1791Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD ( At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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