ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4440G>A (p.Val1480=) (rs76946640)

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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 RCV000218889 SCV000269231 benign not specified 2015-05-17 criteria provided, single submitter clinical testing p.Val1480Val in exon 29 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.4% (11/2818) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP; rs76946640).
Invitae RCV000904909 SCV001049462 benign not provided 2019-01-16 criteria provided, single submitter clinical testing

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