ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.655G>A (p.Val219Ile)

dbSNP: rs3754689
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382944 SCV000416533 benign Congenital lactase deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000288474 SCV000416534 benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001509608 SCV001716429 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001509608 SCV001850503 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27060170)
Genome-Nilou Lab RCV000382944 SCV001981330 benign Congenital lactase deficiency 2021-08-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701856 SCV001932561 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701856 SCV001959657 benign not specified no assertion criteria provided clinical testing

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