ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2701G>T (p.Val901Phe)

dbSNP: rs1664767158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989662 SCV004806013 likely pathogenic Retinitis pigmentosa 12 2024-03-25 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257866 SCV001434713 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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