ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.897G>A (p.Thr299=)

gnomAD frequency: 0.00013  dbSNP: rs377035835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001450091 SCV000650478 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 2023-12-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593002 SCV000701012 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593002 SCV002063219 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962556 SCV004781430 likely benign PLEC-related condition 2019-08-29 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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