ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)

gnomAD frequency: 0.00330  dbSNP: rs184879368
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078896 SCV000334824 benign not specified 2015-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001711188 SCV000526792 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000078896 SCV000614654 benign not specified 2020-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527429 SCV000650421 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 2025-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711188 SCV005222303 likely benign not provided criteria provided, single submitter not provided

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