ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1060-1G>A (rs367543268)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022275 SCV000794610 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-10-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725094 SCV000333965 pathogenic not provided 2015-08-24 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022275 SCV000042960 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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