ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1386C>T (p.Cys462=)

gnomAD frequency: 0.00001  dbSNP: rs1369275354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284922 SCV001471020 likely benign Familial cold autoinflammatory syndrome 2 2019-12-19 criteria provided, single submitter clinical testing

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