ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.162G>A (p.Thr54=)

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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 RCV002780372 SCV003026873 likely benign Cryopyrin associated periodic syndrome 2023-12-18 criteria provided, single submitter clinical testing

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