ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.454G>A (p.Ala152Thr)

gnomAD frequency: 0.01314  dbSNP: rs114525655
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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 RCV000336201 SCV000416541 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 RCV000403725 SCV000416542 likely benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000967966 SCV001115392 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000336201 SCV002800054 benign Congenital lactase deficiency 2021-10-18 criteria provided, single submitter clinical testing

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