ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2212A>C (p.Arg738=)

gnomAD frequency: 0.00016  dbSNP: rs199966186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352281 SCV000414540 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000905524 SCV001050110 likely benign Familial cold autoinflammatory syndrome 2 2025-01-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263059 SCV002542490 uncertain significance Autoinflammatory syndrome 2018-09-01 criteria provided, single submitter clinical testing

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