ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.5568T>C (p.Ala1856=)

gnomAD frequency: 0.60314  dbSNP: rs2278544
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378034 SCV000416447 benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280698 SCV000416448 benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511194 SCV001718397 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001511194 SCV001898792 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511194 SCV005245299 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528499 SCV001740337 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528499 SCV001952484 benign not specified no assertion criteria provided clinical testing

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