Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123841 | SCV000167184 | benign | not specified | 2014-01-06 | 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. |
Labcorp Genetics |
RCV000234095 | SCV000283152 | benign | Bloom syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000123841 | SCV000593632 | benign | not specified | 2019-04-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573446 | SCV000672868 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000123841 | SCV000916685 | benign | not specified | 2018-08-13 | criteria provided, single submitter | clinical testing | Variant summary: BLM c.615G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0016 in 276156 control chromosomes, predominantly within the African subpopulation at a frequency of 0.017 in the gnomAD database, including 3 homozygotes. The observed variant frequency within African control individuals in the gnomAD database is approximately 4.8 fold of the estimated maximal expected allele frequency for a pathogenic variant in BLM causing Bloom Syndrome phenotype (0.0035), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.615G>A in individuals affected with Bloom Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000123841 | SCV002047102 | benign | not specified | 2021-05-17 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000234095 | SCV004016396 | benign | Bloom syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004704968 | SCV005214001 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV000234095 | SCV002089953 | likely benign | Bloom syndrome | 2017-04-25 | no assertion criteria provided | clinical testing |