ClinVar Miner

Submissions for variant NC_000015.10:g.(?_90782812)_(90785091_?)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 RCV001031643 SCV001194949 pathogenic Bloom syndrome 2022-09-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the BLM gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has not been reported in the literature in individuals affected with BLM-related conditions. For these reasons, this variant has been classified as Pathogenic.

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