ClinVar Miner

Submissions for variant NM_153676.3(USH1C):c.496+59_479-35GAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[7]GAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[2] (rs55983148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000005449 SCV000086933 non-pathogenic Usher syndrome, type 1C 2013-06-20 no assertion criteria provided curation Converted during submission to Benign.
GeneReviews RCV000218261 SCV000268749 benign Usher syndrome, type 1 2016-05-19 no assertion criteria provided literature only
OMIM RCV000005449 SCV000025631 pathogenic Usher syndrome, type 1C 2002-01-01 no assertion criteria provided literature only

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