ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1815C>T (p.Asp605=) (rs201388780)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155150 SCV000204836 likely benign not specified 2015-04-30 criteria provided, single submitter clinical testing Asp605Asp in Exon 14 of LOXHD1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (4/8624) of Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs201388780).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155150 SCV000707022 benign not specified 2017-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000155150 SCV000718780 likely benign not specified 2018-01-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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