ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1352G>A (p.Arg451His)

gnomAD frequency: 0.00188  dbSNP: rs76085152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645663 SCV000767414 benign Familial cold autoinflammatory syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000645663 SCV001473279 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263894 SCV002542448 likely benign Autoinflammatory syndrome 2021-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222079 SCV003918177 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NLRP12: BP4, BS1

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