ClinVar Miner

Submissions for variant NM_012275.3(IL36RN):c.169G>A (p.Val57Ile)

gnomAD frequency: 0.00124  dbSNP: rs77864207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585337 SCV000692999 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001084574 SCV001115739 likely benign Generalized pustular psoriasis 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084574 SCV001288879 benign Generalized pustular psoriasis 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263818 SCV002543474 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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