ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.879C>T (p.Ser293=) (rs115527942)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032012 SCV001014688 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032012 SCV001331416 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-06-12 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Research and Development, ARUP Laboratories RCV000032012 SCV000055337 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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