Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000086327 | SCV000608507 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763788 | SCV000894701 | uncertain significance | Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001239396 | SCV001412269 | likely benign | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001526761 | SCV001737299 | uncertain significance | Leber congenital amaurosis 8 | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563888 | SCV001786935 | uncertain significance | Retinitis pigmentosa 12 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935081 | SCV004749368 | uncertain significance | CRB1-related condition | 2024-01-02 | criteria provided, single submitter | clinical testing | The CRB1 c.2681A>G variant is predicted to result in the amino acid substitution p.Asn894Ser. This variant has been reported in the absence of second CRB1 variant in patients with retinitis pigmentosa phenotypes (den Hollander et al. 2001. PubMed ID: 11389483; Vallespin et al. 2007. PubMed ID: 18055816). This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-197398583-A-G). 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. |
Retina International | RCV000086327 | SCV000118473 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001826778 | SCV002090183 | uncertain significance | Leber congenital amaurosis | 2020-04-03 | no assertion criteria provided | clinical testing |