ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1237+38G>A

gnomAD frequency: 0.04243  dbSNP: rs13203056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000832757 SCV000974513 benign not provided 2018-06-18 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.
Genome-Nilou Lab RCV001543853 SCV001762731 benign Pontocerebellar hypoplasia type 6 2021-07-10 criteria provided, single submitter clinical testing

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