Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000713822 | SCV000844459 | likely benign | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067008 | SCV002385863 | likely benign | Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440566 | SCV002751585 | 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: seen in unaffected individuals, 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. |