ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3657T>A (p.Asp1219Glu) (rs397517862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041207 SCV000064898 uncertain significance not specified 2013-02-26 criteria provided, single submitter clinical testing The Asp1219Glu variant in LOXHD1 has not been reported in the literature nor pre viously identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. In summary, the clinical s ignificance of this variant cannot be determined without additional data.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727174 SCV000706345 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing

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