ClinVar Miner

Submissions for variant NM_033004.4(NLRP1):c.438C>A (p.Arg146=)

dbSNP: rs199475700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000089291 SCV004141703 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing NLRP1: BP4, BP7
Invitae RCV000089291 SCV004613467 likely benign not provided 2022-10-27 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000089291 SCV000121772 untested not provided no assertion provided not provided Converted during submission to not provided.

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