ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2493-13A>G

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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 RCV003833003 SCV004630198 likely benign Cryopyrin associated periodic syndrome 2024-01-29 criteria provided, single submitter clinical testing

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