ClinVar Miner

Submissions for variant NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs)

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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 RCV003322685 SCV004027700 pathogenic Mosaic variegated aneuploidy syndrome 1 2023-06-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP, PP4

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