ClinVar Miner

Submissions for variant NM_004933.3(CDH15):c.131G>A (p.Arg44Gln)

gnomAD frequency: 0.00011  dbSNP: rs199879102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001730298 SCV005051486 benign not provided 2024-05-01 criteria provided, single submitter clinical testing CDH15: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001730298 SCV001978522 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730298 SCV001980539 uncertain significance not provided no assertion criteria provided clinical testing

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