ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.4173+6_4173+8del

dbSNP: rs375300532
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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 RCV000341400 SCV000416475 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406813 SCV000416476 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000900468 SCV001044788 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912390 SCV004730949 benign LCT-related disorder 2020-03-18 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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