Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623646 | SCV000740938 | likely benign | Inborn genetic diseases | 2020-01-08 | 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. |
Illumina Laboratory Services, |
RCV001113652 | SCV001271443 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 1 | 2017-04-28 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV001461687 | SCV001665593 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000886775 | SCV002504317 | likely benign | not provided | 2018-07-19 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Revvity Omics, |
RCV000886775 | SCV003813330 | uncertain significance | not provided | 2020-11-13 | criteria provided, single submitter | clinical testing |