ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.601C>T (p.Arg201Cys) (rs111033739)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506881 SCV000603796 pathogenic not specified 2017-02-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723434 SCV000232015 pathogenic not provided 2017-02-09 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022162 SCV000042843 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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