ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8976C>T (p.Ile2992=)

gnomAD frequency: 0.00077  dbSNP: rs375914011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597513 SCV000701191 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876063 SCV001018573 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 2025-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000597513 SCV001475396 benign not specified 2019-11-12 criteria provided, single submitter clinical testing
GeneDx RCV001662638 SCV001873639 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing

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