ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)

gnomAD frequency: 0.00055  dbSNP: rs200722246
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516968 SCV000614598 likely benign not specified 2016-08-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726188 SCV000701284 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV002060251 SCV002417793 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 2023-10-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726188 SCV003815605 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900077 SCV004715175 likely benign PLEC-related condition 2022-10-06 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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