ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12465C>T (p.Tyr4155=)

gnomAD frequency: 0.00008  dbSNP: rs773080070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874296 SCV001016451 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 2024-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132113 SCV003811085 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530821 SCV004732423 likely benign PLEC-related disorder 2019-06-07 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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