ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) (rs112463030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674072 SCV000799345 uncertain significance Deafness, autosomal recessive 77 2018-04-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174807 SCV000226177 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing

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