ClinVar Miner

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

gnomAD frequency: 0.04615  dbSNP: rs41274865
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Total submissions: 9
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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 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, part of Exact Sciences RCV000247789 SCV000302729 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000022097 SCV000603789 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-07-06 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
Genome-Nilou Lab RCV000022097 SCV001748521 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001650840 SCV001862923 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650840 SCV005272552 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000022097 SCV000257441 not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase no assertion provided literature only
Natera, Inc. RCV001276265 SCV001462314 benign Galactosemia 2020-09-16 no assertion criteria provided clinical testing

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