ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.29A>G (p.His10Arg)

dbSNP: rs754630141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001260906 SCV001430597 uncertain significance Usher syndrome 2020-06-05 criteria provided, single submitter clinical testing The CRX variant c.29A>G occurs at a frequency of 0.0008% (gnomAD). The mutation is independently classified as disease causing mutation by three prediction programs. Thus, we consider this variant to be variant of uncertain significance. ACMG criteria used for classification: PM2, PP2, BP4.

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