ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.1419C>A (p.Gly473=)

gnomAD frequency: 0.51566  dbSNP: rs6719488
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301721 SCV000416523 benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361032 SCV000416524 benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001511197 SCV001718400 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511197 SCV001888438 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529740 SCV001743709 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529740 SCV001956917 benign not specified no assertion criteria provided clinical testing

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