ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002795936 SCV003035462 likely pathogenic Sensorineural hearing loss disorder 2022-07-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817120 SCV005068551 likely pathogenic Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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