Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891940 | SCV000311702 | benign | VCP-related condition | 2020-03-27 | 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). |
Illumina Laboratory Services, |
RCV000321686 | SCV000479815 | benign | Amyotrophic Lateral Sclerosis, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000383262 | SCV000479816 | benign | Inclusion Body Myopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000639658 | SCV000761238 | benign | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000243886 | SCV000862968 | benign | not specified | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597014 | SCV001832208 | benign | not provided | 2018-07-06 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000243886 | SCV001984380 | benign | not specified | 2019-12-15 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000243886 | SCV001741332 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000243886 | SCV001807798 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000243886 | SCV001919544 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000243886 | SCV001969889 | benign | not specified | no assertion criteria provided | clinical testing |