ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) (rs140042576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670393 SCV000795238 uncertain significance Deafness, autosomal recessive 77 2017-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150968 SCV000339384 likely benign not specified 2016-02-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150968 SCV000198643 likely benign not specified 2015-05-03 criteria provided, single submitter clinical testing p.Val1608Ile in exon 31 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.8% (22/2752) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs140042576). In addition, the valine (Val) at position 1608 is not cons erved across species, with several mammals having an isoleucine (Ile) at this po sition.

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