ClinVar Miner

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

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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 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,; 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150968 SCV000339384 likely benign not specified 2016-02-26 criteria provided, single submitter clinical testing
Counsyl RCV000670393 SCV000795238 uncertain significance Deafness, autosomal recessive 77 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000973581 SCV001121346 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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