ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.748_759+5del (rs1355262412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673343 SCV000798532 likely pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18 2018-03-14 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504842 SCV000598664 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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