ClinVar Miner

Submissions for variant NM_001927.4(DES):c.821T>C (p.Leu274Pro)

dbSNP: rs267607494
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004776428 SCV005387849 likely pathogenic Desmin-related myofibrillar myopathy 2024-11-05 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056812 SCV000087925 not provided not provided no assertion provided not provided

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