Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503968 | SCV000597784 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2017-03-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763289 | SCV000893936 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085948 | SCV001768243 | pathogenic | not provided | 2023-02-03 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31077556, 23324268, 10671066, 26252096, 28507374, 31199599, 34426522, 32552135, 35923705, 28378818, 30996339) |
Genome- |
RCV000503968 | SCV001821927 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085948 | SCV002239440 | pathogenic | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg116*) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs61753256, gnomAD 0.03%). This premature translational stop signal has been observed in individuals with oculocutaneous albinism (PMID: 31077556, 31199599). ClinVar contains an entry for this variant (Variation ID: 99565). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003467007 | SCV004207620 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-03-06 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085948 | SCV000118091 | not provided | not provided | no assertion provided | not provided |