ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) (rs59691602)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000309890 SCV000352775 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346080 SCV000352776 likely benign Pigmented paravenous chorioretinal atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391581 SCV000352777 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543144 SCV000650640 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2017-04-18 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087005 SCV000119258 not provided not provided no assertion provided not provided

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