ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter)

dbSNP: rs1554599035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000663356 SCV000784666 pathogenic CHARGE syndrome 2018-07-11 criteria provided, single submitter clinical testing

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