ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.282A>T (p.Ser94=)

gnomAD frequency: 0.00011  dbSNP: rs374949230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760580 SCV001990288 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; Also known as p.S94=
Labcorp Genetics (formerly Invitae), Labcorp RCV002074010 SCV002468318 likely benign Cryopyrin associated periodic syndrome 2023-11-04 criteria provided, single submitter clinical testing

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