ClinVar Miner

Submissions for variant NM_018100.3(EFHC1):c.-195A>G

gnomAD frequency: 0.04417  dbSNP: rs2296196
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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 RCV000282437 SCV000464151 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683421 SCV001900502 benign not provided 2019-05-20 criteria provided, single submitter clinical testing

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