ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3258T>A (p.Ala1086=)

dbSNP: rs535494663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878799 SCV001021764 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890005 SCV004706296 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001275658 SCV001460949 benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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