ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)

gnomAD frequency: 0.00012  dbSNP: rs201278290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194194 SCV000248530 uncertain significance not specified 2014-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513011 SCV000609328 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000513011 SCV000708318 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087077 SCV000770402 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 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000194194 SCV001475299 benign not specified 2020-09-09 criteria provided, single submitter clinical testing

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