ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.240C>T (p.Asp80=)

gnomAD frequency: 0.00001  dbSNP: rs200214031
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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 RCV000918931 SCV001064259 benign Cryopyrin associated periodic syndrome 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264093 SCV002542621 likely benign Autoinflammatory syndrome 2022-01-17 criteria provided, single submitter clinical testing

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