ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=)

gnomAD frequency: 0.00178  dbSNP: rs114736976
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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, Mass General Brigham Personalized Medicine RCV000150967 SCV000198641 likely benign not specified 2013-07-28 criteria provided, single submitter clinical testing Tyr612Tyr in Exon 32 LOXHD1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 1.2% (6/490) of African chromosomes by the 1000 Genomes Project and 0.2% (3/1384) of African American c hromosomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/E VS/; dbSNP rs114736976).
Eurofins Ntd Llc (ga) RCV000150967 SCV000855989 likely benign not specified 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000973580 SCV001121345 benign not provided 2020-07-20 criteria provided, single submitter clinical testing

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