ClinVar Miner

Submissions for variant NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala)

gnomAD frequency: 0.00056  dbSNP: rs201725914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117436 SCV000151637 likely benign not specified 2014-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000117436 SCV000883041 likely benign not specified 2018-10-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729393 SCV001978611 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729393 SCV001980473 uncertain significance not provided no assertion criteria provided clinical testing

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