ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2414+16C>T

gnomAD frequency: 0.00604  dbSNP: rs75073147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284997 SCV001471101 benign Familial cold autoinflammatory syndrome 2 2021-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001284997 SCV001718436 benign Familial cold autoinflammatory syndrome 2 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717774 SCV005310531 benign not provided criteria provided, single submitter not provided

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