ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1151A>G (p.His384Arg)

dbSNP: rs1553603566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV002265824 SCV000746407 likely pathogenic Desmin-related myofibrillar myopathy 2017-12-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Heidelberg University RCV004002755 SCV004814178 likely pathogenic Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2023-07-17 criteria provided, single submitter clinical testing

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