ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) (rs533251927)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251498 SCV000316008 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726390 SCV000344331 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000251498 SCV000712020 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing p.Leu1312Leu in Exon 26 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 9/20658 chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs533251927).
Counsyl RCV000669014 SCV000793709 likely benign Deafness, autosomal recessive 77 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV000726390 SCV001035233 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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