Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674701 | SCV000800087 | likely benign | Hurler syndrome | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000208612 | SCV000932848 | other | Mucopolysaccharidosis type 1 | 2018-08-11 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000208612 | SCV001319810 | benign | Mucopolysaccharidosis type 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000208612 | SCV000264374 | not provided | Mucopolysaccharidosis type 1 | no assertion provided | literature only | Pseudodeficiency variants |