ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.900C>T (p.Asp300=)

gnomAD frequency: 0.00001  dbSNP: rs145826369
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645587 SCV000767337 likely benign Cryopyrin associated periodic syndrome 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884692 SCV004699693 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NLRP3: BP4, BP7

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