ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2824-1066del

dbSNP: rs1567055836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779837 SCV000916678 uncertain significance not specified 2017-11-15 criteria provided, single submitter clinical testing Variant summary: The BLM c.2824-1066delA variant involves the alteration of a non-conserved deep intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 2/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 30976 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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