ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.291A>G (p.Ala97=)

gnomAD frequency: 0.00001  dbSNP: rs199475729
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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 RCV003114255 SCV003786885 likely benign Cryopyrin associated periodic syndrome 2022-12-06 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000089300 SCV000121781 untested not provided no assertion provided not provided Converted during submission to not provided.

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