ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.358C>A (p.Pro120Thr)

gnomAD frequency: 0.00001  dbSNP: rs587782955
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000143909 SCV000188780 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-12-17 no assertion criteria provided clinical testing

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