ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) (rs527236084)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662015 SCV000784347 uncertain significance Retinitis pigmentosa 38 2018-03-05 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132663 SCV000172614 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000132663 SCV000926608 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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