ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.627C>T (p.Pro209=)

dbSNP: rs554444159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459644 SCV001663492 likely benign Cryopyrin associated periodic syndrome 2021-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000978469 SCV001890935 likely benign not provided 2019-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264126 SCV002542640 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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