ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)

gnomAD frequency: 0.00059  dbSNP: rs201820569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725963 SCV000525513 likely benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Invitae RCV000558023 SCV000650186 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 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725963 SCV000701205 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725963 SCV001145066 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117953 SCV000152237 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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