ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3639C>T (p.Arg1213=)

gnomAD frequency: 0.00004  dbSNP: rs782293819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534414 SCV000650250 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 2023-09-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732260 SCV000860185 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing

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