ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5506+12G>A (rs200518261)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155142 SCV000204828 benign not specified 2015-06-16 criteria provided, single submitter clinical testing 5506+12G>A in Intron 35 of LOXHD1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.6% (48/7914) of South Asian chromosomes incl uding 1 homozygote, and in 0.6% (50/3710) of European chromosomes by the Exome A ggregation Consortium (ExAC,; dbSNP rs200518261).
PreventionGenetics,PreventionGenetics RCV000155142 SCV000316016 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349291 SCV000408709 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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