ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.969T>G (p.Leu323=)

gnomAD frequency: 0.00814  dbSNP: rs142063194
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254152 SCV000316037 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328717 SCV000414551 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001000433 SCV000646340 benign Familial cold autoinflammatory syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000433 SCV001157247 benign Familial cold autoinflammatory syndrome 2 2023-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002058405 SCV002498507 benign not provided 2024-03-01 criteria provided, single submitter clinical testing NLRP12: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262908 SCV002542579 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing

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