ClinVar Miner

Submissions for variant NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000114378 SCV000148001 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-03-09 no assertion criteria provided literature only Severe classic pathogenic variant. A complex deletion that involves a 3,163-bp deletion of the GALT promoter and a 5' gene region along with a 2,295-bp deletion at the 3' end of the gene.

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