ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu)

gnomAD frequency: 0.00265  dbSNP: rs104895568
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253848 SCV000316034 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084871 SCV000414527 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 RCV001084871 SCV001122577 benign Familial cold autoinflammatory syndrome 2 2024-01-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001084871 SCV002049028 likely benign Familial cold autoinflammatory syndrome 2 2021-09-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262682 SCV002542517 likely benign Autoinflammatory syndrome 2021-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084146 SCV004142680 benign not provided 2022-04-01 criteria provided, single submitter clinical testing NLRP12: BS1, BS2
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084146 SCV000116277 not provided not provided no assertion provided not provided

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