ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.30G>A (p.Leu10=)

gnomAD frequency: 0.00001  dbSNP: rs553819712
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278369 SCV003458150 likely benign Familial Mediterranean fever 2023-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278369 SCV001465378 uncertain significance Familial Mediterranean fever 2020-09-04 no assertion criteria provided clinical testing

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