ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) (rs61735393)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000126642 SCV000604115 benign not specified 2016-09-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515075 SCV000609834 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000126642 SCV000170151 benign not specified 2012-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000559335 SCV000645165 benign Majeed syndrome 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000126642 SCV000539545 likely benign not specified 2016-03-29 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: HGMD entry based on exitence in disease database and personal communication (http://fmf.igh.cnrs.fr/ISSAID/infevers/detail_mutation.php), reportedly identified in patient(s) with psioriasis, but no inofmration is available. MAF 1.2%.
PreventionGenetics RCV000126642 SCV000312208 benign not specified criteria provided, single submitter clinical testing

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