ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5848G>A (p.Glu1950Lys) (rs79045813)

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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 RCV000155141 SCV000204827 benign not specified 2017-10-05 criteria provided, single submitter clinical testing p.Glu1950Lys in exon 37 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 1.2% (204/16356) of African chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs79045813). ACMG/AMP Criteria applied: BS1, BP4 (Richards 2015)
Invitae RCV000971432 SCV001119081 benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000971432 SCV001144457 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing

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