Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001119793 | SCV001278236 | uncertain significance | Tyrosinase-positive oculocutaneous albinism | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001760086 | SCV001991259 | uncertain significance | not provided | 2019-06-20 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23824587) |
Genome- |
RCV001119793 | SCV002040531 | uncertain significance | Tyrosinase-positive oculocutaneous albinism | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001760086 | SCV002365952 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing |