ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) (rs1276890742)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV001002709 SCV001156381 pathogenic Usher syndrome, type 2C 2019-02-01 criteria provided, single submitter clinical testing

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