ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.412C>T (p.Arg138Trp)

gnomAD frequency: 0.00032  dbSNP: rs142971951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645646 SCV000767396 likely benign Familial cold autoinflammatory syndrome 2 2024-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411524 SCV004115676 likely benign NLRP12-related disorder 2023-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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