Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436554 | SCV000534896 | likely benign | not specified | 2016-12-20 | 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. |
Invitae | RCV000509273 | SCV002418075 | likely benign | Hereditary spastic paraplegia 11 | 2022-12-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467797 | SCV002763693 | likely benign | Amyotrophic lateral sclerosis type 5 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467798 | SCV002763694 | likely benign | Charcot-Marie-Tooth disease axonal type 2X | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000509273 | SCV002763696 | likely benign | Hereditary spastic paraplegia 11 | criteria provided, single submitter | clinical testing | ||
Genome |
RCV000509273 | SCV000607326 | not provided | Hereditary spastic paraplegia 11 | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |