ClinVar Miner

Submissions for variant NM_001128159.3(VPS53):c.1218+817A>G

gnomAD frequency: 0.48461  dbSNP: rs11247553
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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 RCV001544316 SCV001763329 benign Pontocerebellar hypoplasia type 2E 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710311 SCV005249132 benign not provided criteria provided, single submitter not provided

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