ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)

gnomAD frequency: 0.00002  dbSNP: rs117094017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001444468 SCV001647471 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2022-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264321 SCV002542392 uncertain significance Autoinflammatory syndrome 2020-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334053 SCV004042067 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NLRC4: BP4, BP7

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