ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3941C>T (p.Thr1314Ile) (rs182125538)

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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 RCV000216597 SCV000271944 uncertain significance not specified 2016-02-23 criteria provided, single submitter clinical testing The p.Thr1314Ile variant in LOXHD1 has not been previously reported in individua ls with hearing loss, but it has been identified in 0.3% (9/2754) of African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs182125538). Although this variant has been seen in the general popul ation, its frequency is not high enough to rule out a pathogenic role. Computati onal prediction tools and conservation analyses do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Thr1314Ile variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000378756 SCV000408730 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727877 SCV000855380 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV000727877 SCV001031175 likely benign not provided 2018-12-20 criteria provided, single submitter clinical testing

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