ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3534C>T (p.Ile1178=)

gnomAD frequency: 0.00005  dbSNP: rs753331276
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001405495 SCV001607419 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416324 SCV004125214 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CRB1: BP4, BP7
Genome-Nilou Lab RCV003451718 SCV004180164 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451719 SCV004180165 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451717 SCV004180166 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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