ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.561C>T (p.Ser187=)

gnomAD frequency: 0.00001  dbSNP: rs910638883
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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 RCV001429208 SCV001631922 likely benign Familial Mediterranean fever 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540307 SCV004781847 likely benign MEFV-related disorder 2020-01-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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