ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9189+2545TGA[6]

dbSNP: rs113052866
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000606875 SCV000790513 likely benign Chorea-acanthocytosis 2017-03-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726270 SCV004160062 benign not provided 2023-07-01 criteria provided, single submitter clinical testing VPS13A: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606875 SCV000734718 uncertain significance Chorea-acanthocytosis no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726270 SCV001963654 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003905660 SCV004722640 likely benign VPS13A-related disorder 2021-02-11 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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