ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.217-244T>C

gnomAD frequency: 0.34317  dbSNP: rs12586511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829418 SCV000971146 benign not provided 2018-06-14 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 RCV001538075 SCV001755096 benign Pontocerebellar hypoplasia type 1A 2021-07-10 criteria provided, single submitter clinical testing

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