ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8128G>A (p.Gly2710Ser) (rs1219540537)

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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 RCV000825331 SCV000966626 uncertain significance not specified 2018-12-31 criteria provided, single submitter clinical testing The p.Gly2710Ser variant in DNAH5 has not been previously reported in individual s with PCD and was absent from large population studies. Computational predictio n tools and conservation analysis suggest that this variant may impact the prote in, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly2710Ser variant is uncertain. ACMG/AMP Criteria applied: PP3.

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