ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3733C>A (p.Arg1245=)

gnomAD frequency: 0.00038  dbSNP: rs367688739
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117966 SCV000152254 likely benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000117966 SCV000614622 benign not specified 2020-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001707528 SCV000727105 likely benign not provided 2019-03-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117966 SCV000855272 likely benign not specified 2018-06-25 criteria provided, single submitter clinical testing
Invitae RCV000872054 SCV001013809 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 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001707528 SCV004163540 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PLEC: BP4

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