ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1577T>C (p.Leu526Pro)

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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 RCV005247898 SCV005900069 likely pathogenic Developmental and epileptic encephalopathy, 31A 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM1,PM2,PP2,PP3

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