ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) (rs4280262)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000398802 SCV000394833 benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576745 SCV000677254 benign Charcot-Marie-Tooth disease, type 1C 2017-04-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595000 SCV000705488 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756309 SCV000884078 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV000756309 SCV001000463 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000576745 SCV000733483 benign Charcot-Marie-Tooth disease, type 1C no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000790000 SCV000929389 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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