Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085349 | SCV000072914 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131282 | SCV000186251 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-22 | criteria provided, single submitter | clinical testing | Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Other data supporting benign classification |
Gene |
RCV000044901 | SCV000210626 | likely benign | not specified | 2017-12-19 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000044901 | SCV000592041 | benign | not specified | 2013-12-24 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000131282 | SCV000683771 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000590013 | SCV000694961 | likely benign | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.6317T>C (p.Leu2106Pro) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 10/119856 control chromosomes at a frequency of 0.0000834, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been reported in the literature, without strong evidence for causality. Additionally, the variant co-occurred with a pathogenic BRCA2 variant (UMD) suggesting the benign role of this variant in disease. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign. |
Genome Diagnostics Laboratory, |
RCV000077370 | SCV000743317 | likely benign | Breast-ovarian cancer, familial 2 | 2015-01-09 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000077370 | SCV000744485 | likely benign | Breast-ovarian cancer, familial 2 | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000077370 | SCV000786130 | uncertain significance | Breast-ovarian cancer, familial 2 | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001112565 | SCV001270230 | uncertain significance | Fanconi anemia, complementation group D1 | 2019-07-24 | 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. |
Illumina Clinical Services Laboratory, |
RCV000077370 | SCV001270231 | uncertain significance | Breast-ovarian cancer, familial 2 | 2019-07-24 | 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. |
Sharing Clinical Reports Project |
RCV000077370 | SCV000109167 | benign | Breast-ovarian cancer, familial 2 | 2011-03-17 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077370 | SCV000146823 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000044901 | SCV000587834 | benign | not specified | 2014-01-31 | no assertion criteria provided | research |