ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2T>A (p.Met1Lys) (rs36024592)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665901 SCV000790102 benign Deafness, autosomal recessive 77 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000041204 SCV000728660 benign not specified 2017-08-25 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041204 SCV000064895 benign not specified 2012-12-20 criteria provided, single submitter clinical testing This variant has been identified in 4% (127/3182) of European American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs36024592) . There is also a second Met amino acid t hat may serve as the start of translation.

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