ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2406+5A>G

dbSNP: rs763104913
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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 RCV001907445 SCV002122420 likely benign Bloom syndrome 2024-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449493 SCV002732687 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-25 criteria provided, single submitter clinical testing The c.2406+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 10 in the BLM gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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