ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1431+10G>T (rs57330753)

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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 RCV000150989 SCV000198677 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 1431+10G>T in Intron 10 of LOXHD1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 1.4% (10/702) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs57330753).
Illumina Clinical Services Laboratory,Illumina RCV000335653 SCV000408775 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000959482 SCV001106392 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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