ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)

dbSNP: rs2032145863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092377 SCV001248851 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813749 SCV005070181 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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