ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4068G>A (p.Arg1356=) (rs539688337)

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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 RCV000220400 SCV000270379 likely benign not specified 2015-02-24 criteria provided, single submitter clinical testing p.Arg1356Arg in exon 26 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (8/8278) o f Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org).
Illumina Clinical Services Laboratory,Illumina RCV000278364 SCV000408728 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728510 SCV000856092 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV000728510 SCV001069863 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing

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