Submissions for variant NM_144687.4(NLRP12):c.2927+4_2927+5dup

dbSNP: rs763190690

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202875	SCV000257884	uncertain significance	not specified	2015-08-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287397	SCV000414516	likely benign	Familial cold autoinflammatory syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907029	SCV001051706	likely benign	Familial cold autoinflammatory syndrome 2	2024-10-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263052	SCV002542530	likely benign	Autoinflammatory syndrome	2021-12-06	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001729541	SCV001978451	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729541	SCV001980495	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950130	SCV004759212	likely benign	NLRP12-related disorder	2023-12-05	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).