ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys)

dbSNP: rs527236115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132668 SCV000172619 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225495 SCV000282524 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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