ClinVar Miner

Submissions for variant NM_001112741.2(KCNC1):c.570+11A>G

dbSNP: rs2133774637
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732868 SCV001984096 likely benign Progressive myoclonic epilepsy type 7 2020-10-14 criteria provided, single submitter clinical testing

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