ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter)

dbSNP: rs2150739058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001829277 SCV002097036 pathogenic CHARGE syndrome 2022-02-11 criteria provided, single submitter clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV001829277 SCV003927838 pathogenic CHARGE syndrome 2023-04-01 no assertion criteria provided clinical testing

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