ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)

gnomAD frequency: 0.00003  dbSNP: rs398124317
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000081825 SCV000113760 uncertain significance not provided 2015-09-02 criteria provided, single submitter clinical testing
Invitae RCV000796849 SCV000936379 likely benign CHARGE association 2021-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000081825 SCV000980456 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22461308, 25996639)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081825 SCV001741520 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000081825 SCV001923092 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081825 SCV001954598 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081825 SCV001972453 likely benign not provided no assertion criteria provided clinical testing

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