ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4149G>A (p.Thr1383=) (rs373657978)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674274 SCV000799583 likely benign Deafness, autosomal recessive 77 2018-04-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150971 SCV000198647 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr1383Thr in Exon 27 of LOXHD1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1/2532 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).

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