ClinVar Miner

Submissions for variant NM_001142763.1:c.-189197_c.610-5166del

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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 RCV000210332 SCV000259087 likely pathogenic Usher syndrome, type 1D 2015-08-28 no assertion criteria provided clinical testing

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