Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152910 | SCV000202337 | benign | not specified | 2013-11-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000152910 | SCV000310864 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000835628 | SCV000977425 | benign | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000835628 | SCV001720828 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554451 | SCV001775696 | benign | Aland island eye disease | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554452 | SCV001775697 | benign | X-linked cone-rod dystrophy 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554453 | SCV001775698 | benign | Congenital stationary night blindness 2A | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000835628 | SCV005209359 | likely benign | not provided | criteria provided, single submitter | not provided |