ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2321+12T>A

gnomAD frequency: 0.00001  dbSNP: rs747043119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002630 SCV001160613 likely benign not specified 2019-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549184 SCV003520807 likely benign Cryopyrin associated periodic syndrome 2023-04-09 criteria provided, single submitter clinical testing

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