ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)

gnomAD frequency: 0.08093  dbSNP: rs7167216
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116501 SCV000301746 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281046 SCV000394433 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.
Ambry Genetics RCV000566425 SCV000672864 benign Hereditary cancer-predisposing syndrome 2016-08-12 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.
Invitae RCV000281046 SCV001000590 benign Bloom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000281046 SCV001623023 benign Bloom syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001530630 SCV001745516 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000281046 SCV002047877 benign Bloom syndrome 2021-02-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000281046 SCV004016381 benign Bloom syndrome 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000116501 SCV000084380 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000116501 SCV000150445 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000281046 SCV002090636 benign Bloom syndrome 2017-03-28 no assertion criteria provided clinical testing

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