ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1314C>T (p.Thr438=)

gnomAD frequency: 0.00001  dbSNP: rs201210274
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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 RCV001453797 SCV001657501 likely benign Cryopyrin associated periodic syndrome 2022-09-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000917359 SCV001747517 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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