ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6162C>T (p.His2054=)

gnomAD frequency: 0.00034  dbSNP: rs563719398
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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 RCV000177620 SCV000248531 uncertain significance not specified 2015-03-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000177620 SCV000332566 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
GeneDx RCV001704845 SCV000531049 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000177620 SCV000614647 benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000528561 SCV000650358 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 2024-01-21 criteria provided, single submitter clinical testing

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