ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2898C>G (p.Leu966=)

gnomAD frequency: 0.00006  dbSNP: rs201220226
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000989394 SCV000555837 benign Bloom syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564251 SCV000672955 likely benign Hereditary cancer-predisposing syndrome 2017-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Mendelics RCV000989394 SCV001139709 likely benign Bloom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989394 SCV001273603 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Pars Genome Lab RCV000989394 SCV001652836 likely benign Bloom syndrome 2021-05-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564251 SCV002531816 likely benign Hereditary cancer-predisposing syndrome 2021-11-23 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000989394 SCV004016391 benign Bloom syndrome 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392289 SCV004130909 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing BLM: BP4, BP7
Natera, Inc. RCV000989394 SCV002088132 likely benign Bloom syndrome 2018-07-21 no assertion criteria provided clinical testing

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