ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.508-17G>A

dbSNP: rs12000481
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Total submissions: 5
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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 RCV000029811 SCV000052466 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Eurofins Ntd Llc (ga) RCV000277594 SCV000331123 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000029811 SCV001160074 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000029811 SCV001724839 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2025-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276269 SCV001462318 benign Galactosemia 2020-09-16 no assertion criteria provided clinical testing

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