ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10380C>T (p.His3460=)

gnomAD frequency: 0.00015  dbSNP: rs371407635
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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 RCV001503687 SCV001708545 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 2024-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540464 SCV004789384 likely benign PLEC-related disorder 2019-02-22 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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