ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.150G>A (p.Pro50=)

gnomAD frequency: 0.00004  dbSNP: rs376952748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001395412 SCV001597122 likely benign Familial Mediterranean fever 2023-09-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264296 SCV002543714 uncertain significance Autoinflammatory syndrome 2021-04-15 criteria provided, single submitter clinical testing

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