ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.2614+12A>T

gnomAD frequency: 0.00116  dbSNP: rs187140134
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517547 SCV001726066 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-26 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732199 SCV001984137 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome 2020-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001729933 SCV005263361 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729933 SCV001978244 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729933 SCV001978464 likely benign not provided no assertion criteria provided clinical testing

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