ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2072+1G>C

dbSNP: rs766603266
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729982 SCV001976686 likely pathogenic Familial cold autoinflammatory syndrome 2 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2

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