Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000078701 | SCV000110561 | benign | not specified | 2015-10-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001281896 | SCV000603839 | benign | none provided | 2020-04-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000078701 | SCV000730469 | likely benign | not specified | 2017-03-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Counsyl | RCV000671886 | SCV000796916 | likely benign | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001150122 | SCV001311135 | likely benign | GM1 gangliosidosis | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV001150123 | SCV001311136 | likely benign | Mucopolysaccharidosis, MPS-IV-B | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Blueprint Genetics | RCV000078701 | SCV000212125 | likely benign | not specified | 2015-03-02 | no assertion criteria provided | research |