Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174725 | SCV000226086 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000174725 | SCV000308727 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000576485 | SCV000373802 | benign | Spinal muscular atrophy, distal, autosomal recessive, 1 | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Laboratory for Molecular Medicine, |
RCV000174725 | SCV000539346 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 25% of total chromosomes in ExAC |
Athena Diagnostics Inc | RCV000576485 | SCV000677350 | benign | Spinal muscular atrophy, distal, autosomal recessive, 1 | 2017-04-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001282638 | SCV000885599 | benign | none provided | 2020-08-24 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173355 | SCV001336443 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Inherited Neuropathy Consortium | RCV000789356 | SCV000928710 | uncertain significance | Autosomal dominant distal hereditary motor neuropathy | no assertion criteria provided | literature only |