ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly)

gnomAD frequency: 0.00006  dbSNP: rs200273554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273780 SCV000481626 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000273780 SCV002333024 benign X-linked lymphoproliferative disease due to XIAP deficiency 2021-12-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263664 SCV002543205 uncertain significance Autoinflammatory syndrome 2018-06-01 criteria provided, single submitter clinical testing

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