ClinVar Miner

Submissions for variant NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV000856832 SCV000920584 pathogenic Epilepsy, familial adult myoclonic, 2 2019-06-03 no assertion criteria provided research This expansion or ones with the same sequence composition of similar size segregates with disease in 158 individuals from 22 families diagnosed with FAME. 16 of these families have confirmed linkage to chromosome 2 with an interval that spans the STARD7 gene.

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