ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6597G>A (p.Gly2199=) (rs115835484)

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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 RCV000150958 SCV000198627 benign not specified 2015-05-26 criteria provided, single submitter clinical testing p.Gly2199Gly in exon 40 of LOXHD1: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 1.7% (27/1596) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs115835484).
Invitae RCV000962583 SCV001109673 benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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