ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1545C>T (p.Pro515=)

gnomAD frequency: 0.00043  dbSNP: rs199968254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725385 SCV000336533 uncertain significance not provided 2015-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000725385 SCV000523412 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Invitae RCV001087346 SCV000770478 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 2024-01-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725385 SCV003817902 uncertain significance not provided 2019-03-21 criteria provided, single submitter clinical testing

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