Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146247 | SCV000193494 | benign | not specified | 2013-08-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000146247 | SCV000304114 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000463737 | SCV000554211 | benign | Spastic paraplegia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312643 | SCV000847030 | benign | Inborn genetic diseases | 2014-12-13 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Athena Diagnostics | RCV000146247 | SCV001476525 | benign | not specified | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668292 | SCV001890115 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001847779 | SCV002105417 | benign | Hereditary spastic paraplegia | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001668292 | SCV005274971 | benign | not provided | criteria provided, single submitter | not provided |