Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162379 | SCV000212689 | benign | Hereditary cancer-predisposing syndrome | 2014-11-07 | 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Prevention |
RCV000242120 | SCV000314838 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000410880 | SCV000404592 | benign | Fanconi anemia, complementation group J | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Counsyl | RCV000410880 | SCV000489871 | benign | Fanconi anemia, complementation group J | 2016-06-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412411 | SCV000489872 | benign | Neoplasm of ovary | 2016-06-18 | criteria provided, single submitter | clinical testing | |
Color | RCV000162379 | SCV000537320 | benign | Hereditary cancer-predisposing syndrome | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000242120 | SCV000538507 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
ARUP Laboratories, |
RCV000410880 | SCV000602888 | benign | Fanconi anemia, complementation group J | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000755226 | SCV000633629 | benign | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000242120 | SCV001364481 | benign | not specified | 2019-08-13 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitters to LOVD: Maximiliano Zeballos, Yukihide Momozawa. |