ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)

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Total submissions: 2
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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 RCV002468702 SCV002764677 pathogenic Miyoshi muscular dystrophy 1 2021-05-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV002468702 SCV005060290 pathogenic Miyoshi muscular dystrophy 1 2023-12-23 criteria provided, single submitter clinical testing

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