ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1471G>T (p.Val491Leu) (rs397517215)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038730 SCV000062408 uncertain significance not specified 2010-06-01 criteria provided, single submitter clinical testing The Val491Leu variant has not been reported in the literature. Valine (Val) at position 491 is conserved across mammals, indicating that the change observed in this individual may not be tolerated.

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