ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2677-343G>A

gnomAD frequency: 0.00001  dbSNP: rs760861776
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994217 SCV001147581 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481765 SCV002783772 uncertain significance Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446573 SCV004172599 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446574 SCV004172600 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446572 SCV004172602 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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