ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2308-4C>G

dbSNP: rs1596238148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015150 SCV001175955 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing The c.2308-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 10 in the BLM gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005093116 SCV005802370 likely benign Bloom syndrome 2024-05-07 criteria provided, single submitter clinical testing

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