ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.107C>T (p.Pro36Leu) (rs111033645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175533 SCV000227035 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022053 SCV000042728 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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