ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1394C>T (p.Ala465Val)

dbSNP: rs960826983
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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 RCV001330391 SCV001522055 uncertain significance Familial cold autoinflammatory syndrome 2 2019-12-06 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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