ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe)

gnomAD frequency: 0.00001  dbSNP: rs144242932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624766 SCV000742147 uncertain significance Inborn genetic diseases 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001821757 SCV002064132 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Natera, Inc. RCV001273016 SCV001455536 uncertain significance Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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