ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6561G>A (p.Glu2187=)

gnomAD frequency: 0.00004  dbSNP: rs782783484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462141 SCV001666053 likely benign 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 2022-08-23 criteria provided, single submitter clinical testing

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