Submissions for variant NM_144687.4(NLRP12):c.960G>A (p.Thr320=)

gnomAD frequency: 0.00311  dbSNP: rs77625808

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000645665	SCV000414552	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	RCV000645665	SCV000767416	benign	Familial cold autoinflammatory syndrome 2	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000645665	SCV001472392	benign	Familial cold autoinflammatory syndrome 2	2023-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263582	SCV002542577	benign	Autoinflammatory syndrome	2021-04-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221926	SCV003918180	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NLRP12: BP4, BP7, BS1, BS2