Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000119139 | SCV000153854 | benign | Ataxia-telangiectasia syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116425 | SCV000167089 | benign | not specified | 2013-10-15 | 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. |
Ambry Genetics | RCV000130979 | SCV000185896 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-06-12 | criteria provided, single submitter | clinical testing | See homoz. |
Genomic Diagnostic Laboratory, |
RCV000116425 | SCV000257605 | benign | not specified | 2015-07-15 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000130979 | SCV000266991 | benign | Hereditary cancer-predisposing syndrome | 2016-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116425 | SCV000301668 | benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000116425 | SCV000332306 | benign | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | |
Color | RCV000130979 | SCV000537361 | benign | Hereditary cancer-predisposing syndrome | 2014-11-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000119139 | SCV000602559 | benign | Ataxia-telangiectasia syndrome | 2018-08-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000119139 | SCV000743727 | likely benign | Ataxia-telangiectasia syndrome | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000130979 | SCV000803143 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000119139 | SCV001263901 | likely benign | Ataxia-telangiectasia syndrome | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ITMI | RCV000116425 | SCV000084277 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genetic Services Laboratory, |
RCV000116425 | SCV000150350 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Genome Diagnostics Laboratory, |
RCV000119139 | SCV000745813 | benign | Ataxia-telangiectasia syndrome | 2015-10-05 | no assertion criteria provided | clinical testing | |
True Health Diagnostics | RCV000130979 | SCV000787864 | benign | Hereditary cancer-predisposing syndrome | 2018-02-20 | no assertion criteria provided | clinical testing |