Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242468 | SCV000303418 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001341989 | SCV001535888 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001341989 | SCV001988402 | uncertain significance | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 29345414) |
Genome- |
RCV001797695 | SCV002040036 | uncertain significance | Tyrosinase-positive oculocutaneous albinism | 2021-11-07 | criteria provided, single submitter | clinical testing |