ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2739G>A (p.Thr913=)

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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 RCV002632256 SCV003500864 likely benign Cryopyrin associated periodic syndrome 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883885 SCV004701189 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing NLRP3: BP4, BP7

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