Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000339959 | SCV000352793 | likely benign | Leber congenital amaurosis 8 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001079750 | SCV000650639 | likely benign | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000339959 | SCV004178865 | likely benign | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453032 | SCV004178866 | likely benign | Pigmented paravenous retinochoroidal atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453031 | SCV004178867 | likely benign | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086363 | SCV000118509 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001275645 | SCV001460936 | likely benign | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |