ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys)

gnomAD frequency: 0.00161  dbSNP: rs143855597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553189 SCV000646324 benign Familial cold autoinflammatory syndrome 2 2024-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000553189 SCV004563687 likely benign Familial cold autoinflammatory syndrome 2 2023-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960349 SCV004774745 likely benign NLRP12-related disorder 2019-11-26 criteria provided, single submitter 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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