ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.221T>C (p.Leu74Pro) (rs111033663)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723459 SCV000700444 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing
OMIM RCV000003799 SCV000023964 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1992-06-23 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000003799 SCV000042745 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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