ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5214-3C>T (rs528236655)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150964 SCV000198636 benign not specified 2017-05-09 criteria provided, single submitter clinical testing c.5214-3C>T variant in intron 33 of LOXHD1: This variant is not expected to have clinical significance because it does not cause a divergence from the splicing consensus sequence, and computational tools do not suggest an impact to splicing . It has been identified in 1% (310/24788) of Latino chromosomes including 4 ho mozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu; dbSNP rs528236655).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724823 SCV000229756 uncertain significance not provided 2015-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280991 SCV000408711 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150964 SCV000726170 likely benign not specified 2018-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000670485 SCV000795342 benign Deafness, autosomal recessive 77 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV000724823 SCV001097169 benign not provided 2019-03-06 criteria provided, single submitter clinical testing

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