Total submissions: 2
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 | |
Prevention |
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 (http://gnomad.broadinstitute.org/variant/1-103343624-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |