ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.812T>C (p.Ile271Thr)

dbSNP: rs786205545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171327 SCV000221524 likely pathogenic not provided criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987408 SCV004805101 likely pathogenic Retinitis pigmentosa 26 2024-03-17 criteria provided, single submitter research
Faculty of Health Sciences, Beirut Arab University RCV001257877 SCV001434628 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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