ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2823+4A>G

gnomAD frequency: 0.00001  dbSNP: rs1168674610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016695 SCV001177680 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-24 criteria provided, single submitter clinical testing The c.2823+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 13 in the BLM gene. This nucleotide position is not well 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 donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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