ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3252G>A (p.Pro1084=)

gnomAD frequency: 0.00002  dbSNP: rs753375396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841022 SCV001354923 likely benign Cardiac arrhythmia 2019-03-30 criteria provided, single submitter clinical testing
Invitae RCV002560002 SCV003298467 likely benign Long QT syndrome 2024-01-21 criteria provided, single submitter clinical testing

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