ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2841C>T (p.Asp947=) (rs761010290)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252838 SCV000316005 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000252838 SCV000731792 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.Asp947Asp in exon 19 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.04% (8/22824) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gn omad.broadinstitute.org; dbSNP rs761010290).
Counsyl RCV000674929 SCV000800345 likely benign Deafness, autosomal recessive 77 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000943646 SCV001089599 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing

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