ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys)

dbSNP: rs1685033697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001174539 SCV001334149 uncertain significance Developmental and epileptic encephalopathy, 39 no assertion criteria provided clinical testing

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