ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.652C>T (p.Leu218=) (rs2070075)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000032587 SCV000052472 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 RCV000078233 SCV000110071 other not provided 2015-02-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000078233 SCV000281539 benign not provided 2015-02-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298701 SCV000479763 likely benign Galactosemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000032587 SCV000631395 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078233 SCV000885499 benign not provided 2017-06-11 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000032587 SCV000042856 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.
GeneReviews RCV000032587 SCV000257444 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-09-23 no assertion criteria provided literature only

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