ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157298 SCV000207030 risk factor Coronary heart disease 2014-09-15 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733476 SCV000861552 other not provided 2018-06-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352575 SCV000472748 likely benign Hyperlipoproteinemia, type I 2016-06-14 criteria provided, single submitter clinical testing
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.
OMIM RCV000001617 SCV000021773 risk factor Hyperlipidemia, familial combined, susceptibility to 1999-08-01 no assertion criteria provided literature only

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