ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5103G>A (p.Ala1701=)

gnomAD frequency: 0.00011  dbSNP: rs542255749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529488 SCV000650310 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 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000603911 SCV000722824 likely benign not provided 2018-09-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000603911 SCV001962162 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing

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