ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) (rs111033818)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022271 SCV000485672 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022271 SCV001163255 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022271 SCV000042956 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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