ClinVar Miner

Submissions for variant NM_002887.4(RARS1):c.741G>A (p.Met247Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002462490 SCV002757217 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002462490 SCV003280594 benign not provided 2022-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002462490 SCV004157976 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing RARS1: PP3, BS2

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