Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625209 | SCV000744139 | likely benign | Amyotrophic lateral sclerosis type 1 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000882074 | SCV001025292 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000882074 | SCV001501844 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | NEFH: BP4, BP7, BS1, BS2 |
Gene |
RCV000882074 | SCV002013300 | likely benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404711 | SCV002710250 | 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. |
Genome Diagnostics Laboratory, |
RCV000625209 | SCV000745593 | likely benign | Amyotrophic lateral sclerosis type 1 | 2015-06-23 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV001701127 | SCV001917295 | benign | not specified | no assertion criteria provided | clinical testing |