ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser)

dbSNP: rs1554300943
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662000 SCV000784332 uncertain significance Progressive myoclonic epilepsy type 3 2018-03-05 criteria provided, single submitter clinical testing

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