ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp)

gnomAD frequency: 0.00716  dbSNP: rs61741349
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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 RCV000625042 SCV000414523 benign Familial cold autoinflammatory syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625042 SCV000743601 benign Familial cold autoinflammatory syndrome 2 2014-10-21 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625042 SCV000744916 benign Familial cold autoinflammatory syndrome 2 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625042 SCV000767401 benign Familial cold autoinflammatory syndrome 2 2025-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263053 SCV002542521 benign Autoinflammatory syndrome 2020-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000625042 SCV004562957 benign Familial cold autoinflammatory syndrome 2 2023-02-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717310 SCV005310522 benign not provided criteria provided, single submitter not provided

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