ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.*230G>C

gnomAD frequency: 0.63911  dbSNP: rs10754558
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379007 SCV000357013 benign Familial cold autoinflammatory syndrome 1 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.
Illumina Laboratory Services, Illumina RCV000284662 SCV000357014 benign Chronic infantile neurological, cutaneous and articular syndrome 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.
Illumina Laboratory Services, Illumina RCV000339908 SCV000357015 benign Familial amyloid nephropathy with urticaria AND deafness 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516896 SCV001725266 benign Cryopyrin associated periodic syndrome 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262946 SCV002542580 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294253 SCV002587575 benign Atypical hemolytic-uremic syndrome 2022-10-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714764 SCV005283586 benign not provided criteria provided, single submitter not provided

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