ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.1650C>G (p.Gly550=)

gnomAD frequency: 0.05209  dbSNP: rs35093754
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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 RCV000392710 SCV000416519 likely benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310026 SCV000416520 likely benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522566 SCV001732140 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001522566 SCV001872101 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522566 SCV005262859 likely benign not provided criteria provided, single submitter not provided

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