ClinVar Miner

Submissions for variant NM_206933.2:c.6326-3582_6658-1028del

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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 RCV000210307 SCV000259094 likely pathogenic Usher syndrome, type 2A 2015-08-28 no assertion criteria provided clinical testing

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