ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.508-24G>A (rs41274867)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000022131 SCV000052467 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics,PreventionGenetics RCV000252524 SCV000302730 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000022131 SCV000603792 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-07-06 criteria provided, single submitter clinical testing
Mendelics RCV000022131 SCV001137804 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000022131 SCV001720273 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000022131 SCV001748523 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001610295 SCV001832869 benign not provided 2018-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25592817)
Research and Development, ARUP Laboratories RCV000022131 SCV000042809 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.
GeneReviews RCV000022131 SCV000257442 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-09-23 no assertion criteria provided literature only
Natera, Inc. RCV001276268 SCV001462317 benign Galactosemia 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000252524 SCV001932125 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000252524 SCV001956150 benign not specified no assertion criteria provided clinical testing

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