ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+686_340+687del

gnomAD frequency: 0.00037  dbSNP: rs944477902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478830 SCV001683106 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2025-01-27 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813173 SCV005438557 likely benign Chuvash polycythemia 2024-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946245 SCV004763474 likely benign VHL-related disorder 2022-07-20 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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