ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.945T>C (p.His315=) (rs61735982)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078244 SCV000110082 benign not specified 2018-07-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078244 SCV000302735 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364599 SCV000479770 likely benign Galactosemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078244 SCV000513103 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 RCV000755542 SCV000603784 benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV000755542 SCV000631398 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029823 SCV000052478 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2010-08-16 no assertion criteria provided clinical testing
Research and Development, ARUP Laboratories RCV000029823 SCV000055339 suspected benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Likely benign.

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