ClinVar Miner

Submissions for variant NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) (rs60538473)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018317 SCV000038596 pathogenic Myofibrillar myopathy 1 2009-06-01 no assertion criteria provided literature only
GeneReviews RCV000018317 SCV000055820 pathologic Myofibrillar myopathy 1 2012-10-29 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056803 SCV000087916 not provided not provided no assertion provided not provided

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