ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3191G>A (p.Arg1064His)

gnomAD frequency: 0.00003  dbSNP: rs571362398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285480 SCV000338413 benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873751 SCV001015807 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 2024-12-31 criteria provided, single submitter clinical testing

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