ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324678 SCV004030320 uncertain significance Retinitis pigmentosa 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818320 SCV005073057 uncertain significance Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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