ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.1793del (p.Pro598fs)

dbSNP: rs1553303871
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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 RCV000623382 SCV000740539 likely pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing

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