ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003389622 SCV004101726 uncertain significance Retinitis pigmentosa 13 2023-08-29 criteria provided, single submitter clinical testing

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