ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)

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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 RCV003336823 SCV004045787 likely pathogenic MEGF10-related myopathy 2022-08-22 criteria provided, single submitter clinical testing
OMIM RCV003152540 SCV003841135 pathogenic Congenital myopathy 10b, mild variant 2024-07-16 no assertion criteria provided literature only

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