Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241521 | SCV001413312 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555022 | SCV001776369 | uncertain significance | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 965835; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Genome Diagnostics Laboratory, |
RCV002276669 | SCV002565807 | uncertain significance | Ehlers-Danlos syndrome | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398996 | SCV004105769 | uncertain significance | COL5A2-related condition | 2023-03-24 | criteria provided, single submitter | clinical testing | The COL5A2 c.1765C>T variant is predicted to result in the amino acid substitution p.Pro589Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189928711-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |