ClinVar Miner

Submissions for variant NM_018100.3(EFHC1):c.-162C>T

gnomAD frequency: 0.00472  dbSNP: rs41273738
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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 RCV000337448 SCV000464152 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695965 SCV005189051 uncertain significance not provided criteria provided, single submitter not provided

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