ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg)

gnomAD frequency: 0.00001  dbSNP: rs752232888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581013 SCV001817683 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing
New York Genome Center RCV001837020 SCV002097917 uncertain significance Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 2021-03-19 criteria provided, single submitter clinical testing
Invitae RCV001581013 SCV002394181 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing

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