ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.1902C>T (p.Pro634=)

gnomAD frequency: 0.00001  dbSNP: rs202014246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352385 SCV000416515 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392713 SCV000416516 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057574 SCV002412056 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940326 SCV004759412 likely benign LCT-related disorder 2019-10-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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