ClinVar Miner

Submissions for variant NM_032119.3:c.16079-1455_c.16196+155del

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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 RCV000210314 SCV000259083 likely pathogenic Usher syndrome, type 2C 2015-08-28 no assertion criteria provided clinical testing

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