ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2027A>G (p.Asp676Gly) (rs16978578)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221734 SCV000269226 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asp676Gly in Exon 15 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 6.8% (5/74) of chromosomes from a p opulation in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs169 78578).
Illumina Clinical Services Laboratory,Illumina RCV000362099 SCV000408761 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000842037 SCV000984030 likely benign not provided 2018-04-24 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 RCV000842037 SCV001117227 benign not provided 2019-02-20 criteria provided, single submitter clinical testing

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