ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)

gnomAD frequency: 0.00101  dbSNP: rs199612329
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517607 SCV000614639 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080078 SCV001012701 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 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871097 SCV001155533 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000871097 SCV001779535 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737593 SCV005354792 likely benign PLEC-related disorder 2024-06-23 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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