ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.501A>G (p.Thr167=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003760713 SCV004399955 likely benign Cryopyrin associated periodic syndrome 2024-01-02 criteria provided, single submitter clinical testing

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