ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)

gnomAD frequency: 0.00007  dbSNP: rs370347438
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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) RCV000724805 SCV000229500 uncertain significance not provided 2015-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087368 SCV000650362 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 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000724805 SCV000732851 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724805 SCV003815627 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing

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