ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1542A>G (p.Gln514=)

gnomAD frequency: 0.02569  dbSNP: rs35653927
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531894 SCV000655414 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263804 SCV002542373 benign Autoinflammatory syndrome 2022-04-14 criteria provided, single submitter clinical testing

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