ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter)

dbSNP: rs1131692325
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000496025 SCV000584181 pathogenic CHARGE syndrome 2016-11-16 criteria provided, single submitter clinical testing

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