ClinVar Miner

Submissions for variant NC_000007.14:g.(?_107660756)_(107661815_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031434 SCV001194740 pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the SLC26A4 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant has not been reported in the literature in individuals affected with SLC26A4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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