ClinVar Miner

Submissions for variant NC_000020.11:g.(?_3227407)_(3239200_?)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 RCV001031732 SCV001195038 pathogenic not provided 2021-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Isolated whole-gene deletions of SLC4A11 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 25138764). A gross deletion of the genomic region encompassing the full coding sequence of the SLC4A11 gene has been identified. Loss-of-function variants in SLC4A11 are known to be pathogenic (PMID: 17220209, 17679935). 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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