ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1261-10G>C

dbSNP: rs767528614
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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 RCV002121853 SCV002444713 likely benign Familial Mediterranean fever 2023-08-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264467 SCV002543697 uncertain significance Autoinflammatory syndrome 2017-10-02 criteria provided, single submitter clinical testing

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