Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002316056 | SCV000847503 | benign | Inborn genetic diseases | 2016-03-21 | 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. |
| Labcorp Genetics |
RCV000874010 | SCV001016123 | benign | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001101188 | SCV001257779 | benign | Kufor-Rakeb syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
| Gene |
RCV001564338 | SCV001787491 | likely benign | not provided | 2020-12-10 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000874010 | SCV002803013 | likely benign | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-04-06 | criteria provided, single submitter | clinical testing |