ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.51T>C (p.Asp17=)

dbSNP: rs1572151908
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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 RCV001001240 SCV001158405 likely benign not specified 2019-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001450814 SCV001654432 likely benign Cryopyrin associated periodic syndrome 2023-11-24 criteria provided, single submitter clinical testing

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