ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.651G>C (p.Ala217=)

gnomAD frequency: 0.00001  dbSNP: rs886051971
Minimum review status: Collection method:
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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
Illumina Laboratory Services, Illumina RCV000307645 SCV000396775 uncertain significance Familial Mediterranean fever 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000307645 SCV004662345 likely benign Familial Mediterranean fever 2024-01-22 criteria provided, single submitter clinical testing

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