ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2163C>T (p.Asn721=)

gnomAD frequency: 0.00022  dbSNP: rs374712759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088419 SCV000650201 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 2023-08-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727065 SCV000705306 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000727065 SCV000723441 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing

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