ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.960-4G>A (rs1555418976)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628697 SCV000749603 likely benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019548 SCV001180920 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-17 criteria provided, single submitter clinical testing The c.960-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 4 in the BLM gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to create a new alternate splice donor site, but ESEfinder does not predict the creation of a non-native donor site, nor a deleterious effect on splicing; 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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