ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3375del (p.Leu1126fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007079 SCV005637025 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-03-05 criteria provided, single submitter clinical testing

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