Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000631451 | SCV000752530 | likely benign | Mucopolysaccharidosis type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000631451 | SCV001313629 | uncertain significance | Mucopolysaccharidosis type 1 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Ambry Genetics | RCV002528855 | SCV003695343 | benign | Inborn genetic diseases | 2022-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
| Revvity Omics, |
RCV003133418 | SCV003809920 | uncertain significance | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000631451 | SCV001452207 | likely benign | Mucopolysaccharidosis type 1 | 2020-06-01 | no assertion criteria provided | clinical testing |