ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2610C>T (p.Val870=)

dbSNP: rs140618467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501450 SCV001706263 likely benign Cryopyrin associated periodic syndrome 2023-04-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264102 SCV002542625 uncertain significance Autoinflammatory syndrome 2019-07-01 criteria provided, single submitter clinical testing

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