Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166225 | SCV000217004 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-19 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other strong data supporting benign classification |
Counsyl | RCV000083122 | SCV000487876 | uncertain significance | Breast-ovarian cancer, familial 2 | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000166225 | SCV000903931 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-23 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001110580 | SCV001268032 | uncertain significance | Fanconi anemia, complementation group D1 | 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). 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, |
RCV000083122 | SCV001268033 | uncertain significance | Breast-ovarian cancer, familial 2 | 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. 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. |
ITMI | RCV000120341 | SCV000084493 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Sharing Clinical Reports Project |
RCV000083122 | SCV000115196 | uncertain significance | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000083122 | SCV000146769 | uncertain significance | Breast-ovarian cancer, familial 2 | 2004-02-20 | no assertion criteria provided | clinical testing |