ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)

gnomAD frequency: 0.00001  dbSNP: rs551919295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151607 SCV000199792 uncertain significance not specified 2014-08-19 criteria provided, single submitter clinical testing The Lys750Glu variant in OTOF has not been previously reported in individuals wi th hearing loss or in large population studies. Computational prediction tools a nd conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Lys60Glu variant is uncertain.
Invitae RCV003764924 SCV004616502 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing

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