Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002234449 | SCV000755950 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997626 | SCV001153241 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000997626 | SCV001766555 | uncertain significance | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 529265; Landrum et al., 2016) |
Preventiongenetics, |
RCV003411508 | SCV004106472 | uncertain significance | COL5A2-related condition | 2023-04-13 | criteria provided, single submitter | clinical testing | The COL5A2 c.2855G>A variant is predicted to result in the amino acid substitution p.Arg952His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189916122-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. |