ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.576+8T>C

gnomAD frequency: 0.00006  dbSNP: rs368495945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539101 SCV001012805 likely benign Pontocerebellar hypoplasia type 1A 2024-08-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997425 SCV005621183 benign not specified 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871196 SCV001466019 likely benign Congenital pontocerebellar hypoplasia type 1 2020-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004731050 SCV005335634 likely benign VRK1-related disorder 2024-03-11 no assertion criteria provided 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).

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