ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1365T>C (p.Pro455=)

dbSNP: rs1581846971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cell and Molecular Biology Laboratory, University of the Punjab Lahore RCV001030015 SCV001190366 uncertain significance Juvenile myoclonic epilepsy no assertion criteria provided case-control

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