ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.243G>A (p.Met81Ile)

dbSNP: rs1572627115
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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 RCV000845375 SCV000987433 likely pathogenic Conduction disorder of the heart criteria provided, single submitter clinical testing

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