ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1731G>A (p.Lys577=)

gnomAD frequency: 0.00126  dbSNP: rs73608454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645664 SCV000767415 benign Familial cold autoinflammatory syndrome 2 2025-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000645664 SCV001474500 likely benign Familial cold autoinflammatory syndrome 2 2019-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263895 SCV002542461 likely benign Autoinflammatory syndrome 2021-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704161 SCV005205957 likely benign not provided criteria provided, single submitter not provided

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