ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1908C>A (p.Ile636=)

dbSNP: rs1454297839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002202220 SCV002354783 likely benign Familial cold autoinflammatory syndrome 2 2022-01-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264456 SCV002542471 uncertain significance Autoinflammatory syndrome 2021-11-25 criteria provided, single submitter clinical testing

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