Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV001095429 | SCV001251011 | uncertain significance | Juvenile amyotrophic lateral sclerosis | 2020-03-31 | criteria provided, single submitter | research | |
Gene |
RCV001723538 | SCV001950700 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16051700, 25681989, 29874175, 32579787) |
Prevention |
RCV003964793 | SCV004793239 | benign | TRPM7-related condition | 2019-11-18 | 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). |
OMIM | RCV000005076 | SCV000025252 | risk factor | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to | 2010-01-05 | no assertion criteria provided | literature only |