ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)

gnomAD frequency: 0.00218  dbSNP: rs376365984
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000222676 SCV000110745 benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222676 SCV000269687 benign not specified 2015-11-03 criteria provided, single submitter clinical testing p.Arg2160Arg in exon 31 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.6% (214/36854) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs376365984).
GeneDx RCV000712750 SCV000529648 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Invitae RCV001083471 SCV000650357 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 Inc RCV000712750 SCV000843274 benign not provided 2017-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504989 SCV002802671 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 2021-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712750 SCV004163510 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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