ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)

dbSNP: rs1554774575
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000623650 SCV000740316 pathogenic Developmental and epileptic encephalopathy, 31A 2018-03-07 criteria provided, single submitter research

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