ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln)

gnomAD frequency: 0.00180  dbSNP: rs74373537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001002024 SCV000767405 benign Familial cold autoinflammatory syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002024 SCV001159847 likely benign Familial cold autoinflammatory syndrome 2 2019-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263892 SCV002542492 likely benign Autoinflammatory syndrome 2019-07-01 criteria provided, single submitter clinical testing

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