ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2871G>A (p.Ser957=) (rs181591912)

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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 RCV000223393 SCV000269229 benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Ser957Ser in exon 19 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 1.53% (43/2804) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; rs181591912).
GeneDx RCV000840099 SCV000982015 likely benign not provided 2018-03-20 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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