ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)

gnomAD frequency: 0.00004  dbSNP: rs1283924469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587283 SCV001815589 uncertain significance not provided 2022-12-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001587283 SCV002225438 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528439 SCV004108788 uncertain significance COL11A1-related disorder 2023-08-24 criteria provided, single submitter clinical testing The COL11A1 c.281C>T variant is predicted to result in the amino acid substitution p.Thr94Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% 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.
CeGaT Center for Human Genetics Tuebingen RCV001587283 SCV005041098 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing COL11A1: PM2, BP4
GenomeConnect, ClinGen RCV001249437 SCV001423444 not provided Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 08-19-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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