ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.82G>A (p.Asp28Asn) (rs111033636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000031852 SCV000042720 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000031852 SCV000052474 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-10-02 no assertion criteria provided clinical testing

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