ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.78G>A (p.Lys26=)

gnomAD frequency: 0.00002  dbSNP: rs148263031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002116557 SCV002444139 likely benign Familial cold autoinflammatory syndrome 2 2023-04-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264466 SCV002542568 uncertain significance Autoinflammatory syndrome 2020-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002116557 SCV003799920 likely benign Familial cold autoinflammatory syndrome 2 2022-04-01 criteria provided, single submitter clinical testing

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