ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.508-17G>A (rs12000481)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029811 SCV000052466 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2018-10-31 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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