ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.3764G>A (p.Arg1255His)

dbSNP: rs751099407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375087 SCV001571904 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP3_Supporting, BS2_Strong
GeneDx RCV001751742 SCV001997091 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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