ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe)

gnomAD frequency: 0.00016  dbSNP: rs189061273
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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) RCV000284702 SCV000333603 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000284702 SCV000614602 likely benign not specified 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876495 SCV001019075 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 2024-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003333967 SCV004042352 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PLEC: BS1

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