ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)

dbSNP: rs786205533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003987405 SCV004804872 pathogenic Retinitis pigmentosa 38 2024-03-17 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171303 SCV000221500 likely pathogenic not provided flagged submission research
Faculty of Health Sciences, Beirut Arab University RCV001257798 SCV001434676 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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