Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120404 | SCV000167435 | benign | not specified | 2013-12-31 | 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 | RCV000131536 | SCV000186531 | benign | Hereditary cancer-predisposing syndrome | 2014-08-08 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Invitae | RCV001084094 | SCV000218946 | benign | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000408974 | SCV000489861 | benign | Fanconi anemia, complementation group J | 2016-08-15 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410510 | SCV000489862 | benign | Neoplasm of ovary | 2016-08-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000120404 | SCV000600922 | benign | not specified | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Color | RCV000131536 | SCV000684280 | benign | Hereditary cancer-predisposing syndrome | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000589730 | SCV000699727 | benign | not provided | 2016-07-01 | criteria provided, single submitter | clinical testing | Variant summary: The BRIP1 c.430G>A (p.Ala144Thr) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 164/121364 control chromosomes (2 homozygotes) at a frequency of 0.0013513, which is approximately 22 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000589730 | SCV000889216 | benign | not provided | 2017-02-07 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120404 | SCV000084556 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
True Health Diagnostics | RCV000131536 | SCV000787970 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-26 | no assertion criteria provided | clinical testing | |
Leiden Open Variation Database | RCV000120404 | SCV001364459 | benign | not specified | 2019-08-13 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa. |