Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000045529 | SCV000073542 | likely benign | Hereditary breast and ovarian cancer syndrome | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Michigan Medical Genetics Laboratories, |
RCV000077440 | SCV000195954 | likely benign | Breast-ovarian cancer, familial 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000164639 | SCV000215303 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-25 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification |
Genomic Diagnostic Laboratory, |
RCV000045529 | SCV000257620 | uncertain significance | Hereditary breast and ovarian cancer syndrome | 2015-06-19 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000077440 | SCV001272872 | uncertain significance | Breast-ovarian cancer, familial 2 | 2017-07-13 | 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. |
Illumina Clinical Services Laboratory, |
RCV001114949 | SCV001272873 | uncertain significance | Fanconi anemia, complementation group D1 | 2017-07-13 | 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. |
Color Health, |
RCV000164639 | SCV001353631 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-16 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000077440 | SCV000109238 | likely benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077440 | SCV000145779 | uncertain significance | Breast-ovarian cancer, familial 2 | 2004-02-20 | no assertion criteria provided | clinical testing |