ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter)

dbSNP: rs1687040860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329845 SCV001521391 uncertain significance Familial cold autoinflammatory syndrome 4 2019-07-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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