ClinVar Miner

Submissions for variant NM_018100.3(EFHC1):c.-148_-147GC[1]

dbSNP: rs796720054
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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 RCV000392485 SCV000464153 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672675 SCV001889424 benign not provided 2020-08-12 criteria provided, single submitter clinical testing

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