ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.540C>T (p.Cys180=)

gnomAD frequency: 0.00051  dbSNP: rs189256993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000710176 SCV000334503 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710176 SCV000614646 likely benign not provided 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000710176 SCV000725422 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Invitae RCV001087405 SCV000770430 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 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710176 SCV004156399 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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