ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1200C>T (p.Asn400=)

gnomAD frequency: 0.00010  dbSNP: rs202094185
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718366 SCV001945777 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073364 SCV002425093 likely benign Cryopyrin associated periodic syndrome 2022-11-08 criteria provided, single submitter clinical testing

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