ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.611-15T>C (rs146912450)

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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 RCV000155152 SCV000204838 benign not specified 2014-09-09 criteria provided, single submitter clinical testing 611-15T>C in Intron 05 of LOXHD1: This variant is not expected to have clinical significance It has been identified in 1.2% (16/1368) of African American chrom osomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146912450). In addition, a T>C change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing.
Illumina Clinical Services Laboratory,Illumina RCV000269260 SCV000408782 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000667753 SCV000792252 likely benign Deafness, autosomal recessive 77 2017-06-13 criteria provided, single submitter clinical testing

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