ClinVar Miner

Submissions for variant NC_000015.9:g.(?_91290623)_(91290730_?)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 RCV001959001 SCV002245349 pathogenic Bloom syndrome 2021-02-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the BLM gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 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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