ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.378-27G>C (rs41274865)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000022097 SCV000052462 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
PreventionGenetics,PreventionGenetics RCV000247789 SCV000302729 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000247789 SCV000603789 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Mendelics RCV000022097 SCV001137803 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-05-28 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022097 SCV000042773 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.
GeneReviews RCV000022097 SCV000257441 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-09-23 no assertion criteria provided literature only

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