ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)

dbSNP: rs1060499581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477758 SCV000536774 likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2015-05-27 no assertion criteria provided research

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