Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160207 | SCV000210567 | likely benign | not specified | 2017-06-01 | 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. |
Ambry Genetics | RCV000163030 | SCV000213518 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-28 | criteria provided, single submitter | clinical testing | Other data supporting benign classification |
Counsyl | RCV000077665 | SCV000488195 | likely benign | Breast-ovarian cancer, familial 2 | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000160207 | SCV000591764 | likely benign | not specified | 2013-09-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000531905 | SCV000635175 | likely benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000163030 | SCV000683443 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000077665 | SCV001266759 | uncertain significance | Breast-ovarian cancer, familial 2 | 2017-04-28 | 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, |
RCV001109420 | SCV001266760 | uncertain significance | Fanconi anemia, complementation group D1 | 2017-04-28 | 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. |
Sharing Clinical Reports Project |
RCV000077665 | SCV000109468 | likely benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing |