ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3687G>T (p.Arg1229=)

gnomAD frequency: 0.00003  dbSNP: rs782037394
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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 RCV000526513 SCV000650255 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
Eurofins Ntd Llc (ga) RCV000596341 SCV000705723 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing

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