ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.*871C>G

gnomAD frequency: 0.09084  dbSNP: rs78956562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326025 SCV000464189 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001698586 SCV001916588 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698586 SCV005222025 likely benign not provided criteria provided, single submitter not provided

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