ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.94G>C (p.Ala32Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404076 SCV006066864 likely pathogenic Cardiovascular phenotype 2022-08-01 criteria provided, single submitter clinical testing

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