ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.225del (p.Glu76fs)

dbSNP: rs1685036155
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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, University of Leipzig Medical Center RCV001262596 SCV001440526 likely pathogenic Developmental and epileptic encephalopathy, 39 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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