ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9690C>T (p.Ala3230=)

gnomAD frequency: 0.00001  dbSNP: rs782488286
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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 RCV000648667 SCV000770487 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 2023-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437369 SCV004163462 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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