ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4714C>A (p.Arg1572=) (rs75949023)

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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 RCV000041212 SCV000064903 benign not specified 2016-04-07 criteria provided, single submitter clinical testing p.Arg1572Arg in Exon 30 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 5.8% (7/120) of c hromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/ projects/SNP; rs75949023).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041212 SCV000332720 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000420867 SCV000511113 benign not provided 2016-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000041212 SCV000717828 benign not specified 2017-09-20 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 RCV000420867 SCV001106091 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000420867 SCV001144453 benign not provided 2019-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001126686 SCV001285914 benign Deafness, autosomal recessive 77 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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