ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) (rs118174674)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041205 SCV000064896 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Arg1090Gln in Exon 21 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 2.1% (54/2532) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs118174674).
PreventionGenetics,PreventionGenetics RCV000041205 SCV000316006 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370667 SCV000408738 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000041205 SCV000732323 benign not specified 2017-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000953383 SCV001099953 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000953383 SCV001144450 benign not provided 2019-05-16 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845070 SCV000986912 not provided Deafness, autosomal recessive 77 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/21/2017 by GTR ID Shodair Children's Hospital. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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