ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) (rs529972175)

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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 RCV000217673 SCV000270367 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing p.Val415Gly in exon 9 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.44% (12/2730) of African chromos omes by the Exome Aggregation Consortium (ExAC,
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727376 SCV000707996 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing

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