ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) (rs149324758)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429298 SCV000518777 benign not specified 2016-01-27 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676401 SCV000802178 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000676401 SCV000986891 not provided not provided no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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