ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2264G>T (p.Gly755Val) (rs188517529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150982 SCV000198662 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing Gly755Val in exon 17 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (20/2652) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs188517529).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150982 SCV000707704 benign not specified 2017-05-01 criteria provided, single submitter clinical testing

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