ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) (rs144826521)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488138 SCV000575204 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000488138 SCV000706398 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764413 SCV000895470 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266183 SCV001444355 uncertain significance Inborn genetic diseases 2019-03-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000488138 SCV001740596 likely benign not provided no assertion criteria provided clinical testing

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