ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys)

gnomAD frequency: 0.00183  dbSNP: rs187338487
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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) RCV000403364 SCV000335318 benign not specified 2015-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000554088 SCV000514141 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Invitae RCV001082362 SCV000650300 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
Athena Diagnostics Inc RCV000554088 SCV001145083 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930078 SCV004746864 likely benign PLEC-related condition 2021-03-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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