ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.963C>T (p.Phe321=)

gnomAD frequency: 0.00048  dbSNP: rs368425406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000375820 SCV000345027 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079033 SCV001015130 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 2025-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288672 SCV001475956 benign not specified 2020-02-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543137 SCV004766631 likely benign PLEC-related disorder 2019-07-19 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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