ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4644G>A (p.Ala1548=)

gnomAD frequency: 0.06519  dbSNP: rs62642470
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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) RCV000078870 SCV000110730 benign not specified 2013-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078870 SCV000304338 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000557988 SCV000650292 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 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001618246 SCV001845528 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078870 SCV000152268 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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