ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) (rs374474061)

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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 RCV000220317 SCV000271945 uncertain significance not specified 2015-05-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1361His va riant in LOXHD1 has not been previously reported in individuals with hearing los s, but has been identified in 0.3% (9/2738) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs374474061) . Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Arg1361His variant is uncertain, its frequency and lack o f evolutionarily conservation suggest that it is more likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725787 SCV000339376 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000670488 SCV000795345 uncertain significance Deafness, autosomal recessive 77 2017-11-03 criteria provided, single submitter clinical testing

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