ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3090G>A (p.Thr1030=) (rs113994614)

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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 RCV000215194 SCV000269230 benign not specified 2015-05-26 criteria provided, single submitter clinical testing p.Thr1030Thr in Exon 20 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 0.54% (15/2770) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs113994614 ).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000215194 SCV000340305 likely benign not specified 2017-04-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263132 SCV000408742 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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