Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724297 | SCV000228990 | uncertain significance | not provided | 2014-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177159 | SCV000527186 | likely benign | not specified | 2018-01-29 | 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. |
Invitae | RCV001083602 | SCV001013514 | benign | MPI-congenital disorder of glycosylation | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001083602 | SCV001276096 | uncertain significance | MPI-congenital disorder of glycosylation | 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. |
Genetic Services Laboratory, |
RCV000177159 | SCV002066637 | benign | not specified | 2021-02-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724297 | SCV004132843 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | MPI: BP4, BP7 |
Clinical Genetics, |
RCV000177159 | SCV001923252 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724297 | SCV001966786 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001083602 | SCV002089780 | benign | MPI-congenital disorder of glycosylation | 2019-10-21 | no assertion criteria provided | clinical testing |