ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.452T>C (p.Val151Ala) (rs111033701)

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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 RCV000505985 SCV000603787 pathogenic not specified 2016-12-29 criteria provided, single submitter clinical testing
Counsyl RCV000022116 SCV000800543 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-30 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022116 SCV000042794 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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