ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2751A>T (p.Thr917=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003792404 SCV004588599 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542274 SCV004782035 likely benign CRB1-related disorder 2023-11-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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