ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) (rs121908958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790688 SCV000331293 pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763088 SCV000893615 likely pathogenic Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000007060 SCV000027256 pathogenic Miyoshi muscular dystrophy 1 2003-06-10 no assertion criteria provided literature only
Counsyl RCV000176936 SCV000789409 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-02-10 no assertion criteria provided clinical testing

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