ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1938G>A (p.Pro646=)

gnomAD frequency: 0.00003  dbSNP: rs104895160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083723 SCV001063272 likely benign Familial Mediterranean fever 2024-01-22 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083723 SCV000115815 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083723 SCV002087373 likely benign Familial Mediterranean fever 2020-02-19 no assertion criteria provided clinical testing

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