ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.906C>T (p.Tyr302=)

gnomAD frequency: 0.00016  dbSNP: rs528346065
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001825767 SCV001017978 likely benign Pontocerebellar hypoplasia type 1A 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955730 SCV004767409 likely benign VRK1-related disorder 2019-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV001729729 SCV001979207 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729729 SCV001980278 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001825767 SCV002093702 likely benign Pontocerebellar hypoplasia type 1A 2020-02-13 no assertion criteria provided clinical testing

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