ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.602+5A>G

gnomAD frequency: 0.00110  dbSNP: rs200744982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591096 SCV000705312 likely benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648628 SCV000770448 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 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001584404 SCV001818512 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing

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