ClinVar Miner

Submissions for variant NM_001128159.3(VPS53):c.1867-81C>T

gnomAD frequency: 0.40515  dbSNP: rs7219151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829414 SCV000971142 benign not provided 2018-06-19 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 RCV001544031 SCV001762999 benign Pontocerebellar hypoplasia type 2E 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829414 SCV005249120 benign not provided criteria provided, single submitter not provided

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