ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.*392A>C

dbSNP: rs9463792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274285 SCV000464185 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707159 SCV005222024 likely benign not provided criteria provided, single submitter not provided

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