ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.111C>T (p.Ile37=)

gnomAD frequency: 0.00004  dbSNP: rs145314485
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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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002662 SCV001160648 likely benign not specified 2019-06-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886464 SCV004703666 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NLRP3: BP4, BP7

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