ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5869G>A (p.Glu1957Lys) (rs373848470)

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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 RCV000156099 SCV000205812 uncertain significance not specified 2013-10-11 criteria provided, single submitter clinical testing The Glu1957Lys variant in LOXHD1 has not been reported in individuals with heari ng loss, but has been identified in 0.03% (1/3181) of European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; db SNP rs373848470). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional data is needed to dete rmine the clinical significance of this variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727379 SCV000708012 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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