ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2262C>T (p.Ser754=)

gnomAD frequency: 0.00007  dbSNP: rs782261639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959994 SCV001106936 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 2025-01-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132127 SCV003814942 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing

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