ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)

gnomAD frequency: 0.00006  dbSNP: rs782728053
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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) RCV000724524 SCV000229624 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000724524 SCV000528844 likely benign not provided 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV000533228 SCV000650136 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 2023-08-18 criteria provided, single submitter clinical testing

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