ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.111-21C>T

gnomAD frequency: 0.24263  dbSNP: rs9450740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543860 SCV001762740 benign Pontocerebellar hypoplasia type 6 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001638144 SCV001848813 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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