ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)

gnomAD frequency: 0.00092  dbSNP: rs35224686
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000724734 SCV000149192 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000724734 SCV000231997 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Invitae RCV000465434 SCV000555823 benign Bloom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575229 SCV000672917 likely benign Hereditary cancer-predisposing syndrome 2018-11-28 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 RCV000465434 SCV000838960 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818262 SCV002066535 likely benign not specified 2021-04-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001818262 SCV002511748 uncertain significance not specified 2022-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575229 SCV002531382 likely benign Hereditary cancer-predisposing syndrome 2021-03-28 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724734 SCV004222436 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000465434 SCV002092374 likely benign Bloom syndrome 2017-08-10 no assertion criteria provided clinical testing

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