ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)

gnomAD frequency: 0.00011  dbSNP: rs201098035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725544 SCV000527043 likely benign not provided 2019-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725544 SCV000701016 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Invitae RCV002059577 SCV002465805 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 2021-08-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725544 SCV004184753 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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