ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2927+17G>A

gnomAD frequency: 0.00864  dbSNP: rs111310321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002077 SCV001159918 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001002077 SCV001732320 benign Familial cold autoinflammatory syndrome 2 2025-01-23 criteria provided, single submitter clinical testing

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