Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120407 | SCV000150071 | benign | not specified | 2017-12-21 | 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 | RCV001082551 | SCV000166684 | benign | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000116162 | SCV000172953 | benign | Hereditary cancer-predisposing syndrome | 2017-12-08 | criteria provided, single submitter | clinical testing | No disease association in appropriately sized case-control study(ies);Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification;In silico models in agreement (benign);Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Counsyl | RCV000410203 | SCV000489853 | likely benign | Fanconi anemia, complementation group J | 2016-07-05 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411259 | SCV000489854 | likely benign | Neoplasm of ovary | 2016-07-05 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000120407 | SCV000600925 | benign | not specified | 2016-08-19 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000589840 | SCV000699730 | benign | not provided | 2016-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000589840 | SCV000807154 | likely benign | not provided | 2017-08-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000589840 | SCV000889221 | benign | not provided | 2016-08-19 | criteria provided, single submitter | clinical testing | |
Color | RCV000116162 | SCV000910543 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-29 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990029 | SCV001140793 | likely benign | Familial cancer of breast | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000410203 | SCV001157291 | benign | Fanconi anemia, complementation group J | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000410203 | SCV001287318 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
ITMI | RCV000120407 | SCV000084559 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |