ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro)

dbSNP: rs1558038097
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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 RCV000678983 SCV000805199 uncertain significance Usher syndrome type 2A 2018-05-11 criteria provided, single submitter clinical testing

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