Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 | |
Prevention |
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 (http://gnomad.broadinstitute.org/variant/1-103544421-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ce |
RCV001587283 | SCV005041098 | uncertain significance | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | COL11A1: PM2, BP4 |
Genome |
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. |