ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu)

dbSNP: rs267607104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000067 SCV000020210 pathogenic Familial infantile myoclonic epilepsy 2010-09-10 no assertion criteria provided literature only
Division of Medical Genetics; Sainte-Justine Hospital RCV000000067 SCV000211973 pathogenic Familial infantile myoclonic epilepsy 2014-12-22 no assertion criteria provided literature only

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