ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.891C>T (p.Ser297=) (rs142285818)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132601 SCV000172548 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000294558 SCV000440882 likely benign Congenital Stationary Night Blindness, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351834 SCV000440883 likely benign Retinitis Pigmentosa, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing

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