ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) (rs367630521)

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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 RCV000218569 SCV000271942 uncertain significance not specified 2016-01-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu972Lys var iant in LOXHD1 has not been previously reported in individuals with hearing loss , but has been identified in 0.32% (9/2784) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs367630521) . Computational prediction tools and conservation analysis suggest that the p.Gl u972Lys variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. In summary, while the clinical significa nce of the p.Glu972Lys variant is uncertain, these data suggest that it is more likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726309 SCV000343644 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV000726309 SCV001119082 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing

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