Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001401941 | SCV001603779 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001401941 | SCV001773306 | uncertain significance | not provided | 2023-07-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV004531224 | SCV004118401 | uncertain significance | COL11A1-related disorder | 2022-11-21 | criteria provided, single submitter | clinical testing | The COL11A1 c.1138G>A variant is predicted to result in the amino acid substitution p.Glu380Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.062% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103488405-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |