ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)

gnomAD frequency: 0.00003  dbSNP: rs201416081
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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) RCV000727770 SCV000855160 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV001085171 SCV001098083 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 2023-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727770 SCV001155541 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003918182 SCV004732178 likely benign PLEC-related condition 2019-05-02 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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