ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6840C>T (p.Ala2280=)

gnomAD frequency: 0.00010  dbSNP: rs202182619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727856 SCV000855322 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
Invitae RCV001421530 SCV001624055 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 2020-12-04 criteria provided, single submitter clinical testing

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