ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1182C>T (p.Cys394=)

gnomAD frequency: 0.00006  dbSNP: rs115352681
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000950308 SCV001096605 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-09 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890104 SCV004705008 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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