ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5554G>A (p.Gly1852Arg) (rs727504988)

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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 RCV000156405 SCV000206123 uncertain significance not specified 2014-02-27 criteria provided, single submitter clinical testing The Gly1852Arg variant in LOXHD1 has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analyses do not provide strong support for or against an impa ct to the protein. In summary, additional information is needed to determine th e clinical significance of this variant.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477922 SCV000536816 uncertain significance Deafness, autosomal recessive 77 2015-01-22 no assertion criteria provided research

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