ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1650C>T (p.Ser550=)

gnomAD frequency: 0.00008  dbSNP: rs541271992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725363 SCV000336367 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000276882 SCV000596441 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Invitae RCV001078989 SCV000770419 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 2023-11-27 criteria provided, single submitter clinical testing

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