ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.287G>A (p.Arg96Gln) (rs376467400)

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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 RCV000150996 SCV000198684 uncertain significance not specified 2014-08-07 criteria provided, single submitter clinical testing The Arg96Gln variant in LOXHD1 has not been previously reported in individuals w ith hearing loss, but has been identified in 0.06% (2/3182) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs376467400). Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the Arg96Gln variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000263044 SCV000408788 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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