Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000826723 | SCV000968318 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001789373 | SCV002031577 | benign | Laurence-Moon syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789371 | SCV002031578 | benign | Ataxia-hypogonadism-choroidal dystrophy syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789372 | SCV002031579 | benign | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789370 | SCV002031580 | benign | Hereditary spastic paraplegia 39 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000826723 | SCV005313143 | benign | not provided | criteria provided, single submitter | not provided |