Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145681 | SCV000192785 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000145681 | SCV000229456 | benign | not specified | 2014-06-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000145681 | SCV000312987 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000281386 | SCV000474470 | benign | Hypogonadotropic hypogonadism 5 with or without anosmia | 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. |
Invitae | RCV000350478 | SCV000562412 | benign | CHARGE association | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000145681 | SCV000731862 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Pro2045Pro in exon 31 of CHD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 4.35% (288/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs6999971). |
Athena Diagnostics Inc | RCV000711195 | SCV000841526 | benign | not provided | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715713 | SCV000846544 | benign | History of neurodevelopmental disorder | 2016-03-24 | 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 |