ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs)

dbSNP: rs1555414495
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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 RCV000623662 SCV000740519 likely pathogenic not provided 2016-04-20 criteria provided, single submitter clinical testing

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