ClinVar Miner

Submissions for variant NM_001927.4(DES):c.46C>T (p.Arg16Cys)

gnomAD frequency: 0.00001  dbSNP: rs60798368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056802 SCV000087915 not provided not provided no assertion provided not provided
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000239680 SCV000298016 pathogenic Myofibrillar myopathy 2016-08-16 no assertion criteria provided clinical testing

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