ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.106G>A (p.Asp36Asn) (rs1801177)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352575 SCV000472748 benign Hyperlipoproteinemia, type I 2018-03-06 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454647 SCV000539547 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency, association with hyperlipidemia.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733476 SCV000861552 other not provided 2018-06-13 criteria provided, single submitter clinical testing
Mendelics RCV000352575 SCV001137594 benign Hyperlipoproteinemia, type I 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000001617 SCV000021773 risk factor Hyperlipidemia, familial combined, susceptibility to 1999-08-01 no assertion criteria provided literature only
Blueprint Genetics RCV000157298 SCV000207030 risk factor Coronary heart disease 2014-09-15 no assertion criteria provided clinical testing

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