ClinVar Miner

Submissions for variant NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val)

gnomAD frequency: 0.00331  dbSNP: rs61729484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616288 SCV000734728 benign Deafness-intellectual disability, Martin-Probst type syndrome no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726271 SCV001967477 benign not specified no assertion criteria provided clinical testing

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