ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7911G>A (p.Ala2637=)

gnomAD frequency: 0.00005  dbSNP: rs372688821
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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) RCV000177721 SCV000229639 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054101 SCV002473428 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 2025-01-22 criteria provided, single submitter clinical testing

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