ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)

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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 RCV003602048 SCV004562429 likely benign Familial cold autoinflammatory syndrome 2 2023-08-16 criteria provided, single submitter clinical testing

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