ClinVar Miner

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

gnomAD frequency: 0.00407  dbSNP: rs115527942
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Total submissions: 4
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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 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000032012 SCV002050145 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-06-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835640 SCV002085243 benign Galactosemia 2017-05-10 no assertion criteria provided clinical testing

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