ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17974-1G>C (rs1581711527)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000857229 SCV000999815 pathogenic Usher syndrome type 2 2018-08-06 criteria provided, single submitter clinical testing This variant was identified in combination with a second variant (probably in trans, but this could not be confirmed) in the same gene (ADGRV1) in a patient with Usher syndrome

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