Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543253 | SCV000653011 | benign | Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653911 | SCV001867730 | benign | not provided | 2018-08-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27095681, 25726362) |
Ce |
RCV001653911 | SCV002544702 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CHCHD10: BP4, BP7, BS1, BS2 |
Ambry Genetics | RCV002448775 | SCV002732671 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003980009 | SCV004786534 | benign | CHCHD10-related condition | 2019-06-13 | 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). |
Genome Diagnostics Laboratory, |
RCV001579619 | SCV001807911 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001579619 | SCV001923725 | benign | not specified | no assertion criteria provided | clinical testing |