ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.502G>T (p.Val168Leu) (rs367543258)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022125 SCV000220506 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-07-11 criteria provided, single submitter literature only
Research and Development, ARUP Laboratories RCV000022125 SCV000042803 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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