ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2487G>C (p.Leu829=)

dbSNP: rs143499267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262135 SCV002542508 uncertain significance Autoinflammatory syndrome 2020-01-01 criteria provided, single submitter clinical testing
Invitae RCV003095945 SCV003456114 likely benign Familial cold autoinflammatory syndrome 2 2023-12-17 criteria provided, single submitter clinical testing

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