ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2556-8T>C

dbSNP: rs1567052156
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003492150 SCV000838973 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709365 SCV001634104 likely benign Bloom syndrome 2024-03-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256491 SCV002529414 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-12 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004997221 SCV005624301 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing The BLM c.2556-8T>C variant has been reported in the published literature in an individual with breast cancer (PMID: 35264596 (2022)). The frequency of this variant in the general population, 0.000004 (1/250630 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BLM mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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