ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3561G>A (p.Lys1187=) (rs376334860)

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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 RCV000215177 SCV000270375 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing p.Lys1187Lys in Exon 23 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 4/9450 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs376334860).
Counsyl RCV000672411 SCV000797512 likely benign Deafness, autosomal recessive 77 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV000943544 SCV001089493 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing

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