ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1944C>T (p.Ser648=) (rs369039902)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726001 SCV000341143 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265092 SCV000408762 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000407308 SCV000711096 benign not specified 2016-07-21 criteria provided, single submitter clinical testing p.Ser648Ser in Exon 14 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.5 (37/7902) of S outh Asian chromosomes including two homozygotes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs369039902).

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