Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pele Pequeno Principe Research Institute, |
RCV000991224 | SCV000925975 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2019-06-28 | criteria provided, single submitter | research | The NM_000372.5:c.1456delG variant has not been previously described in the literature and in our study. It is presented in homozygous status in an individual with classical phenotype of albinism. The c.1456delG variant meets our criteria to be classified as pathogenic according to ACMG Guidelines, 2015. |
Genome- |
RCV000991224 | SCV001821973 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005012316 | SCV005631397 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-03-29 | criteria provided, single submitter | clinical testing |