ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) (rs35727744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712228 SCV000842672 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Counsyl RCV000666123 SCV000790366 likely benign Deafness, autosomal recessive 77 2017-03-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041196 SCV000064887 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asp694Tyr in Exon 16 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (22/702) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35727744).

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