ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)

dbSNP: rs1553469156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578394 SCV000680376 likely pathogenic Developmental and epileptic encephalopathy, 39 2017-11-28 criteria provided, single submitter clinical testing

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