ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.699G>A (p.Leu233=)

dbSNP: rs180177498
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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 RCV002513893 SCV003453712 likely benign Cryopyrin associated periodic syndrome 2022-09-26 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084228 SCV000116363 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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