ClinVar Miner

Submissions for variant NC_000015.9:g.(?_91289802)_(91292950_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582925 SCV005064005 pathogenic Bloom syndrome 2023-05-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant results in the deletion of exons 2 and part of exon 3 (c.-4-817_452del) of the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155).

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