ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6318G>A (p.Gln2106=)

dbSNP: rs556328818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377756 SCV000338306 likely benign not specified 2016-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000544472 SCV000650371 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 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437050 SCV004163505 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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