ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) (rs786205535)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171305 SCV000221502 likely pathogenic not provided no assertion criteria provided research
Faculty of Health Sciences,Beirut Arab University RCV001257796 SCV001434674 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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