ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) (rs866017859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213323 SCV000271946 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing The p.Thr1419Ile variant in LOXHD1 has been previously identified by our laborat ory in 1 individual with hearing loss and was absent from large population studi es. Computational prediction tools and conservation analyses suggest that this v ariant may not impact the protein, though this information is not predictive eno ugh to rule out pathogenicity. In summary, the clinical significance of the p.Th r1419Ile variant is uncertain.
Counsyl RCV000670454 SCV000795308 uncertain significance Deafness, autosomal recessive 77 2017-11-07 criteria provided, single submitter clinical testing

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