ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)

dbSNP: rs1195403033
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Total submissions: 1
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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 RCV001250804 SCV001426287 pathogenic Usher syndrome type 2A 2020-06-04 criteria provided, single submitter clinical testing

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