Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000195307 | SCV000072926 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000129753 | SCV000184560 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-04 | 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 |
RCV000044913 | SCV000210386 | likely benign | not specified | 2017-04-06 | 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 of Molecular Diagnosis of Cancer, |
RCV000240685 | SCV000265952 | uncertain significance | Breast neoplasm | 2015-11-01 | criteria provided, single submitter | research | |
Illumina Clinical Services Laboratory, |
RCV000406166 | SCV000383740 | likely benign | Fanconi anemia, complementation group D1 | 2019-03-19 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV000113573 | SCV000383741 | likely benign | Breast-ovarian cancer, familial 2 | 2019-03-19 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Department of Pathology and Laboratory Medicine, |
RCV000044913 | SCV000592044 | benign | not specified | 2013-11-15 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000034454 | SCV000609564 | likely benign | not provided | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000034454 | SCV000694965 | likely benign | not provided | 2016-12-01 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.6325G>A (p.Val2109Ile) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 38/122036 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.0038354 (33/8604). This frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant has been reported in numerous affected individuals in the literature, mostly of Asian origin, without strong evidence for causality. BIC reports the variant in 2 individuals who also carry pathogenic variants (BRCA1 c.4163_4164insA; BRCA2 c.9076C>T), also supportive of a benign outcome. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign, although some classify it as a VUS. Taken together, this variant is classified likley benign. |
Counsyl | RCV000113573 | SCV000784864 | likely benign | Breast-ovarian cancer, familial 2 | 2017-01-18 | criteria provided, single submitter | clinical testing | |
3DMed Clinical Laboratory Inc | RCV000677821 | SCV000803981 | uncertain significance | Cancer of the pancreas | 2018-05-21 | criteria provided, single submitter | clinical testing | |
Color | RCV000129753 | SCV000902701 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-03 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034454 | SCV000043221 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Breast Cancer Information Core |
RCV000113573 | SCV000146827 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Sharing Clinical Reports Project |
RCV000113573 | SCV000297542 | benign | Breast-ovarian cancer, familial 2 | 2008-10-28 | no assertion criteria provided | clinical testing |