ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.4329C>T (p.Gly1443=)

gnomAD frequency: 0.15421  dbSNP: rs3739022
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290653 SCV000416471 benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347971 SCV000416472 benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520902 SCV001730116 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520902 SCV001833768 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520902 SCV005245315 benign not provided criteria provided, single submitter not provided

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