ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.*4078C>A

gnomAD frequency: 0.17448  dbSNP: rs28382751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268272 SCV000481663 benign X-linked lymphoproliferative disease due to XIAP deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261083 SCV002542668 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing

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