Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000292593 | SCV000351435 | likely benign | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000607351 | SCV000720111 | likely benign | not specified | 2017-11-08 | 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 | RCV002059358 | SCV002487884 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000292593 | SCV004048866 | benign | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910064 | SCV004719488 | benign | DARS2-related condition | 2019-09-26 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome |
RCV000292593 | SCV000606875 | not provided | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 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. |