ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1179C>T (p.Pro393=)

gnomAD frequency: 0.00003  dbSNP: rs104895082
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083685 SCV001038563 likely benign Familial Mediterranean fever 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192541 SCV001360753 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490735 SCV002807209 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-09-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000083685 SCV003802176 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126421 SCV003802177 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126422 SCV003802179 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083685 SCV000115772 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083685 SCV002087411 likely benign Familial Mediterranean fever 2020-08-21 no assertion criteria provided clinical testing

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