Submissions for variant NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=)

gnomAD frequency: 0.00142  dbSNP: rs140769141

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000534268	SCV000414513	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.
Invitae	RCV000534268	SCV000646334	benign	Familial cold autoinflammatory syndrome 2	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000534268	SCV001472911	benign	Familial cold autoinflammatory syndrome 2	2020-02-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263051	SCV002542537	likely benign	Autoinflammatory syndrome	2020-11-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884478	SCV004700685	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	NLRP12: BP4, BP7