ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2074+7A>G

dbSNP: rs1279559326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498954 SCV001703709 likely benign Bloom syndrome 2023-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998933 SCV005624305 uncertain significance not provided 2024-11-17 criteria provided, single submitter clinical testing The BLM c.2074+7A>G variant has not been reported in individuals with BLM-related conditions in the published literature. The frequency of this variant in the general population, 0.000004 (1/251164 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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