ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)

gnomAD frequency: 0.00024  dbSNP: rs759030267
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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) RCV000591982 SCV000701842 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV001089413 SCV001016693 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 2023-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000591982 SCV001145059 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000591982 SCV003817232 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing

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