Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000085935 | SCV002066915 | likely pathogenic | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000085935 | SCV002293763 | pathogenic | not provided | 2023-11-05 | criteria provided, single submitter | clinical testing | This variant, c.230_232dup, results in the insertion of 1 amino acid(s) of the TYR protein (p.Arg77_Glu78insGly), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752328625, gnomAD 0.04%). This variant has been observed in individual(s) with clinical features of TYR-related conditions and/or oculocutaneous albinism (PMID: 10571953, 30791930, 31077556, 33177702). This variant is also known as 232-233insGGG and c.229_230insGGG. ClinVar contains an entry for this variant (Variation ID: 99554). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003460779 | SCV004207582 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-03-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000085935 | SCV004238787 | likely pathogenic | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Juno Genomics, |
RCV004796013 | SCV005418148 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | criteria provided, single submitter | clinical testing | PM2_Supporting+PM4+PM3_VeryStrong+PP4 | |
Fulgent Genetics, |
RCV004796013 | SCV005631910 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-05-03 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085935 | SCV000118078 | not provided | not provided | no assertion provided | not provided |