ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) (rs199645176)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155139 SCV000204825 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Cys2019Cys in Exon 39 of LOXHD1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (2/2532) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (
Illumina Clinical Services Laboratory,Illumina RCV000327437 SCV000408703 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668608 SCV000793239 likely benign Deafness, autosomal recessive 77 2017-08-07 criteria provided, single submitter clinical testing
Invitae RCV000909898 SCV001054732 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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