ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2828_2829dup (p.Arg944fs)

dbSNP: rs533054990
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407434 SCV000414518 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057526 SCV002470229 likely benign Familial cold autoinflammatory syndrome 2 2024-09-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884479 SCV004701995 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing NLRP12: BS1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001778922 SCV002014773 risk factor Multisystem inflammatory syndrome in children 2021-11-14 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003912381 SCV004735273 likely benign NLRP12-related disorder 2021-05-20 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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