ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.876G>A (p.Thr292=) (rs1055607)

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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 RCV000029821 SCV000052476 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 RCV000078240 SCV000110078 benign not specified 2018-07-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078240 SCV000302733 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359493 SCV000479767 likely benign Galactosemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078240 SCV000513102 benign not specified 2016-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755541 SCV000603797 benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV000029821 SCV000631397 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-12-05 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000029821 SCV000055336 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.

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