ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter)

dbSNP: rs886040981
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Total submissions: 2
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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 RCV000258090 SCV000328324 pathogenic CHARGE syndrome 2016-09-05 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000258090 SCV000804863 pathogenic CHARGE syndrome 2016-10-06 no assertion criteria provided clinical testing

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