Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000425360 | SCV000511071 | likely benign | not provided | 2016-11-22 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000471401 | SCV000557271 | benign | Hereditary spastic paraplegia 11 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000516663 | SCV000615422 | benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516663 | SCV000730087 | benign | not specified | 2018-01-09 | 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 Diagnostics Laboratory, |
RCV000471401 | SCV000743944 | benign | Hereditary spastic paraplegia 11 | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000471401 | SCV001273771 | benign | Hereditary spastic paraplegia 11 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Genome Diagnostics Laboratory, |
RCV001848742 | SCV002105749 | likely benign | Hereditary spastic paraplegia | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467775 | SCV002763730 | likely benign | Amyotrophic lateral sclerosis type 5 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467776 | SCV002763731 | likely benign | Charcot-Marie-Tooth disease axonal type 2X | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000471401 | SCV002763732 | likely benign | Hereditary spastic paraplegia 11 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002502460 | SCV002809599 | benign | Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X | 2022-03-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000471401 | SCV000745904 | likely benign | Hereditary spastic paraplegia 11 | 2017-06-02 | no assertion criteria provided | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000425360 | SCV001964224 | likely benign | not provided | no assertion criteria provided | clinical testing |