ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.98+6T>G (rs886051550)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708674 SCV000821911 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275505 SCV000394407 uncertain significance Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000275505 SCV000623359 uncertain significance Bloom syndrome 2018-06-27 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 317405). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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