ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) (rs187587197)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155366 SCV000205053 benign not specified 2016-02-07 criteria provided, single submitter clinical testing p.Gly1509Glu in exon 29 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 5% (80/1614) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs187587197).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155366 SCV000345467 benign not specified 2016-09-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514495 SCV000610973 benign not provided 2017-03-17 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605508 SCV000744780 likely benign Deafness, autosomal recessive 77 2015-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000605508 SCV000790347 likely benign Deafness, autosomal recessive 77 2017-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000514495 SCV000977226 benign not provided 2018-03-26 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 RCV000514495 SCV001096790 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000605508 SCV001140890 benign Deafness, autosomal recessive 77 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605508 SCV001286349 uncertain significance 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605508 SCV000733793 benign Deafness, autosomal recessive 77 no assertion criteria provided clinical testing

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