ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4353+1G>A

dbSNP: rs1804804514
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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 RCV001529348 SCV001742629 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529348 SCV001953141 pathogenic not provided no assertion criteria provided clinical testing

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