ClinVar Miner

Submissions for variant NC_000010.11:g.(?_96271332)_(96271418_?)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 RCV001031654 SCV001194960 pathogenic Agammaglobulinemia 4, autosomal recessive 2022-09-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLNK-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the BLNK 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 BLNK are known to be pathogenic (PMID: 10583958, 24582315). For these reasons, this variant has been classified as Pathogenic.

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