ClinVar Miner

Submissions for variant NC_000011.9:g.(?_45827353)_(47804770_?)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 RCV003119908 SCV003795172 pathogenic Leukocyte adhesion deficiency type II 2022-03-15 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 affected with SLC35C1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the SLC35C1 gene has been identified. Loss-of-function variants in SLC35C1 are known to be pathogenic (PMID: 16455955, 24403049). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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