ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3543C>T (p.Val1181=)

gnomAD frequency: 0.00150  dbSNP: rs202185399
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000308519 SCV000337251 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV001171996 SCV000528010 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545431 SCV000650248 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 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171996 SCV001334923 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7
Athena Diagnostics RCV000308519 SCV001475280 benign not specified 2024-06-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001171996 SCV005222334 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001171996 SCV001799936 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001171996 SCV001964045 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001171996 SCV001977872 likely benign not provided no assertion criteria provided clinical testing

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