Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078062 | SCV000109900 | benign | not specified | 2013-03-01 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000078062 | SCV000301749 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000381515 | SCV000394412 | benign | Bloom syndrome | 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 | RCV000381515 | SCV000555819 | benign | Bloom syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568229 | SCV000672867 | benign | Hereditary cancer-predisposing syndrome | 2016-08-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589956 | SCV000694483 | benign | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | Variant summary: The BLM c.893C>T (p.Thr298Met) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1165/122686 control chromosomes (43 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.0901317 (780/8654). This frequency is about 25 times the estimated maximal expected allele frequency of a pathogenic BLM variant (0.0035355), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. Additionally, the variant has been reported at the same frequency in control and affected populations, further evidence that this variant is benign (Sakiyama_IJC_2005). One clinical diagnostic laboratory/reputable database has classified this variant as benign. Taken together and based on the high allele frequency in the general population, this variant was classified as benign. |
Gene |
RCV000589956 | SCV001852096 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327, 27876123) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000078062 | SCV002047164 | benign | not specified | 2021-05-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000568229 | SCV002533175 | benign | Hereditary cancer-predisposing syndrome | 2020-11-06 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000381515 | SCV004016393 | benign | Bloom syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000381515 | SCV004564079 | benign | Bloom syndrome | 2023-11-16 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000078062 | SCV000084392 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Laboratory of Diagnostic Genome Analysis, |
RCV000589956 | SCV001798985 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000078062 | SCV001808960 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000381515 | SCV002089985 | benign | Bloom syndrome | 2017-04-25 | no assertion criteria provided | clinical testing |