ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6204G>A (p.Thr2068=)

gnomAD frequency: 0.00004  dbSNP: rs979599396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000936384 SCV001155527 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001499302 SCV001704064 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 2023-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533596 SCV004716507 likely benign PLEC-related disorder 2021-11-29 no assertion criteria provided 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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