Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000202714 | SCV000171875 | benign | not specified | 2014-04-03 | 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. |
Genomic Diagnostic Laboratory, |
RCV000202714 | SCV000258043 | benign | not specified | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001249805 | SCV000481055 | likely benign | Neuropathy, hereditary sensory and autonomic, type 1A | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000356423 | SCV000626936 | benign | Hereditary sensory and autonomic neuropathy type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172882 | SCV001335955 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV003656629 | SCV001473261 | benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975132 | SCV004792869 | benign | SPTLC1-related condition | 2019-06-06 | 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). |
Clinical Genetics, |
RCV000202714 | SCV001923034 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000202714 | SCV001928479 | benign | not specified | no assertion criteria provided | clinical testing |