ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs)

dbSNP: rs886040990
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Total submissions: 1
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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 RCV000258074 SCV000328335 pathogenic CHARGE syndrome 2016-09-05 criteria provided, single submitter clinical testing

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