ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=)

gnomAD frequency: 0.00029  dbSNP: rs199767579
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617908 SCV000737667 likely benign Cardiovascular phenotype 2016-10-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000631830 SCV000752926 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841802 SCV001346443 benign Cardiac arrhythmia 2018-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001613408 SCV001834517 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477352 SCV002803670 likely benign Short QT syndrome type 1; Long QT syndrome 2 2021-07-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001613408 SCV004564238 benign not provided 2023-08-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000631830 SCV004835873 benign Long QT syndrome 2024-02-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700253 SCV001920677 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001613408 SCV001958857 likely benign not provided no assertion criteria provided clinical testing

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