ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.1141C>T (p.Gln381Ter) (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 Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2015-05-27 no assertion criteria provided research

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