ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln)

dbSNP: rs114828879
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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 RCV000326698 SCV000416443 likely benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360630 SCV000416444 likely benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955964 SCV001102703 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000955964 SCV005262851 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972396 SCV004791263 benign LCT-related disorder 2019-05-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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