ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)

gnomAD frequency: 0.00569  dbSNP: rs34132016
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117938 SCV000152215 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224453 SCV000280811 likely benign not provided 2016-05-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Eurofins Ntd Llc (ga) RCV000117938 SCV000333252 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000117938 SCV000524067 benign not specified 2016-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084026 SCV000677067 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 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000224453 SCV000843229 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224453 SCV001155506 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing PLEC: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000224453 SCV002033901 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224453 SCV002036323 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004529973 SCV004738740 benign PLEC-related disorder 2019-05-29 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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