Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001082976 | SCV000259490 | benign | Spastic paraplegia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000435012 | SCV000521454 | benign | not specified | 2016-07-06 | 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. |
Athena Diagnostics | RCV000713436 | SCV000844044 | benign | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001119664 | SCV001278092 | benign | Hereditary spastic paraplegia 15 | 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, |
RCV001847922 | SCV002106081 | benign | Hereditary spastic paraplegia | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001119664 | SCV002514118 | benign | Hereditary spastic paraplegia 15 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713436 | SCV002545186 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | ZFYVE26: BP4, BS1, BS2 |
Breakthrough Genomics, |
RCV000713436 | SCV005289234 | benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000713436 | SCV001797989 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000713436 | SCV001959195 | likely benign | not provided | no assertion criteria provided | clinical testing |