ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10944G>A (p.Thr3648=)

gnomAD frequency: 0.00004  dbSNP: rs201659441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699841 SCV000828570 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 2022-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535742 SCV004730470 likely benign PLEC-related disorder 2023-10-05 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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