Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178540 | SCV000230637 | benign | not specified | 2015-01-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000178540 | SCV000247506 | likely benign | not specified | 2015-05-15 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000178540 | SCV000269138 | benign | not specified | 2016-03-03 | criteria provided, single submitter | clinical testing | p.Thr3122Thr in Exon 43 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3% (503/16486) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs200412477). |
Athena Diagnostics Inc | RCV000710469 | SCV000840696 | benign | not provided | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710469 | SCV000980359 | benign | not provided | 2018-05-23 | 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 | RCV000710469 | SCV001118024 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001157219 | SCV001318770 | benign | Usher syndrome type 2C | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Clinical Genetics, |
RCV000178540 | SCV001920640 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000178540 | SCV001970652 | benign | not specified | no assertion criteria provided | clinical testing |