ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) (rs886040998)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000258114 SCV000328348 pathogenic CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
SBielas Lab, Department of Human Genetics,University of Michigan RCV000258114 SCV000680044 pathogenic CHARGE association 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000258114 SCV001197950 likely pathogenic CHARGE association no assertion criteria provided research

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