ClinVar Miner

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

gnomAD frequency: 0.09975  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
Breakthrough Genomics, Breakthrough Genomics RCV001698586 SCV005222025 likely benign not provided criteria provided, single submitter not provided
GeneDx RCV001698586 SCV001916588 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326025 SCV000464189 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing

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