ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.*1671T>C

gnomAD frequency: 0.35875  dbSNP: rs13702
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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 RCV000353989 SCV000472794 benign Hyperlipoproteinemia, type I 2018-01-13 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.
Invitae RCV001519438 SCV001728310 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001519438 SCV001834058 benign not provided 2019-04-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24990426, 21386085, 25814643, 26820803, 23246289)
OMIM RCV000033176 SCV000056982 association High density lipoprotein cholesterol level quantitative trait locus 11 2013-01-10 no assertion criteria provided literature only

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