ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.80-19dup

dbSNP: rs56223346
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573628 SCV001840864 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506648 SCV002801238 likely benign Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 2022-05-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528680 SCV001740830 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573628 SCV001799791 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573628 SCV001927968 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573628 SCV001974463 likely benign not provided no assertion criteria provided clinical testing

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