ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.634C>T (p.Gln212Ter) (rs111033746)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022170 SCV000220970 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-12-18 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723558 SCV000110070 pathogenic not provided 2012-11-19 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022170 SCV000042852 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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