ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)

gnomAD frequency: 0.00019  dbSNP: rs201211875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078944 SCV000770456 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 2023-12-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727700 SCV000855046 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662704 SCV001880006 benign not specified 2021-04-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727700 SCV004163468 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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