ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.2714A>G (p.Asp905Gly)

gnomAD frequency: 0.01755  dbSNP: rs115690016
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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 RCV000321962 SCV000416509 likely benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374209 SCV000416510 likely benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955965 SCV001102704 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000321962 SCV002796637 likely benign Congenital lactase deficiency 2021-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972397 SCV004786513 benign LCT-related disorder 2019-05-08 criteria provided, single submitter 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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