ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.450A>G (p.Glu150=)

dbSNP: rs1194375582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077154 SCV002368315 likely benign Cryopyrin associated periodic syndrome 2022-06-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702286 SCV001928858 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702286 SCV001971827 likely benign not provided no assertion criteria provided clinical testing

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