Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212942 | SCV000171265 | benign | not specified | 2013-10-23 | 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. |
Prevention |
RCV000212942 | SCV000315332 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Color Diagnostics, |
RCV000127686 | SCV000686363 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989961 | SCV001140717 | likely benign | Fanconi anemia complementation group O | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262197 | SCV001439982 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 3 | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
ARUP Laboratories, |
RCV000679801 | SCV001474144 | benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000679801 | SCV002010650 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798427 | SCV002043690 | benign | Breast and/or ovarian cancer | 2023-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989961 | SCV002424701 | benign | Fanconi anemia complementation group O | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000212942 | SCV002551134 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000127686 | SCV002650635 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002498629 | SCV002813195 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000679801 | SCV003917955 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | RAD51C: BS2 |
KCCC/NGS Laboratory, |
RCV001262197 | SCV004017246 | benign | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001262197 | SCV004805809 | benign | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-03-29 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000127686 | SCV000265441 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-01 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000212942 | SCV001808682 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000679801 | SCV001906071 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000679801 | SCV001959140 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000679801 | SCV002035934 | likely benign | not provided | no assertion criteria provided | clinical testing |