ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10248C>T (p.Gly3416=)

gnomAD frequency: 0.00001  dbSNP: rs200805625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704799 SCV000730025 likely benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000616619 SCV000855195 likely benign not specified 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871352 SCV001012992 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 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704799 SCV004163452 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7, BS2

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