ClinVar Miner

Submissions for variant NC_000008.10:g.(?_90958358)_(90960130_?)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 RCV001385272 SCV001585056 pathogenic Microcephaly, normal intelligence and immunodeficiency 2023-05-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 12-13 of the NBN gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with NBN-related conditions. The region of the NBN gene that includes exon(s) 13 has been determined to be clinically significant (PMID: 28076792; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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