Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174130 | SCV000225375 | likely benign | not specified | 2014-08-15 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000223981 | SCV000280793 | benign | not provided | 2016-01-06 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000174130 | SCV000312458 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000174130 | SCV000514414 | benign | not specified | 2017-11-09 | 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. |
Laboratory for Molecular Medicine, |
RCV000174130 | SCV000540220 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency + variant associated with BBS |
Invitae | RCV001082949 | SCV001000656 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000223981 | SCV001150923 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | RPGRIP1L: BP4, BS2 |
Illumina Laboratory Services, |
RCV001120841 | SCV001279351 | uncertain significance | Meckel syndrome, type 5 | 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). 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. |
Genetic Services Laboratory, |
RCV000174130 | SCV002070312 | likely benign | not specified | 2020-09-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271335 | SCV001452420 | benign | Familial aplasia of the vermis | 2019-12-28 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000174130 | SCV001921619 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000223981 | SCV001969000 | likely benign | not provided | no assertion criteria provided | clinical testing |