Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120406 | SCV000150070 | benign | not specified | 2017-05-14 | 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. |
Invitae | RCV001084461 | SCV000153857 | benign | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000116161 | SCV000185903 | benign | Hereditary cancer-predisposing syndrome | 2014-08-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000120406 | SCV000314843 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000410926 | SCV000489805 | benign | Fanconi anemia, complementation group J | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412457 | SCV000489806 | benign | Neoplasm of ovary | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000120406 | SCV000600924 | benign | not specified | 2017-07-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759713 | SCV000889220 | benign | not provided | 2017-07-04 | criteria provided, single submitter | clinical testing | |
Color | RCV000116161 | SCV000902553 | benign | Hereditary cancer-predisposing syndrome | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990030 | SCV001140794 | likely benign | Familial cancer of breast | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000410926 | SCV001287319 | likely benign | Fanconi anemia, complementation group J | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ITMI | RCV000120406 | SCV000084558 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
True Health Diagnostics | RCV000116161 | SCV000805254 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-30 | no assertion criteria provided | clinical testing |