ClinVar Miner

Submissions for variant NM_001128159.3(VPS53):c.1314-19dup

dbSNP: rs36070043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620364 SCV001845784 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002225138 SCV002503770 benign Pontocerebellar hypoplasia type 2E 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency of 26.6% (rs36070043; 38,152/143,452 alleles in gnomAD v2.1.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1.
Genome-Nilou Lab RCV002225138 SCV002514515 benign Pontocerebellar hypoplasia type 2E 2021-12-05 criteria provided, single submitter clinical testing

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