ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11940C>T (p.Ile3980=)

gnomAD frequency: 0.00674  dbSNP: rs148865812
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078841 SCV000110701 benign not specified 2013-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000078841 SCV000529150 benign not specified 2016-10-19 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 RCV000551388 SCV000650158 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 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001795057 SCV002545644 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001795057 SCV005267404 benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV000078841 SCV005620969 benign not specified 2023-12-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001795057 SCV002034932 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795057 SCV002035431 likely benign not provided no assertion criteria provided clinical testing

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