ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.498T>C (p.Pro166=) (rs193922249)

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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 RCV000029810 SCV000052465 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506326 SCV000603790 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762558 SCV000892889 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Invitae RCV000029810 SCV001012942 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-12-31 criteria provided, single submitter clinical testing

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