Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000335176 | SCV000337060 | uncertain significance | not provided | 2015-11-12 | criteria provided, single submitter | clinical testing | |
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV000019705 | SCV001251007 | uncertain significance | Amyotrophic lateral sclerosis type 9 | 2020-03-31 | criteria provided, single submitter | research | |
Illumina Laboratory Services, |
RCV000019705 | SCV001272127 | likely benign | Amyotrophic lateral sclerosis type 9 | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000335176 | SCV001751941 | likely benign | not provided | 2021-05-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29525178, 23665167, 23047679, 17900154, 18852347, 16501576, 23393617, 18087731, 22190368, 33875291) |
Athena Diagnostics | RCV001659725 | SCV001880141 | likely benign | not specified | 2021-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000335176 | SCV002419676 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003974847 | SCV004793105 | likely benign | ANG-related disorder | 2022-12-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000019705 | SCV000040003 | pathogenic | Amyotrophic lateral sclerosis type 9 | 2008-10-01 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV000335176 | SCV001929989 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000335176 | SCV001974436 | likely benign | not provided | no assertion criteria provided | clinical testing |