ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.7C>G (p.Leu3Val) (rs186043734)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125346 SCV000168797 benign not specified 2014-04-21 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125346 SCV000270263 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing p.Leu3Val in exon 1 of HARS2: This variant is not expected to have clinical sign ificance because the leucine (Leu) at this position is not conserved through spe cies, with >5 mammals having a valine (Val) at this position. Furthermore, it h as been in 0.1% (9/6124) of European chromosomes and 0.1% (10/7898) of South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti, dbSNP rs186043734).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726109 SCV000342045 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279368 SCV000453328 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing

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