ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Women's Health, Inc. RCV001264129 SCV001442230 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2019-12-15 no assertion criteria provided clinical testing

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