ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4005+4AGC[3]

dbSNP: rs550852869
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307001 SCV000352881 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363973 SCV000352882 likely benign Pigmented paravenous retinochoroidal atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407841 SCV000352883 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952239 SCV001098724 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445847 SCV004172611 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000363973 SCV004172613 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445846 SCV004172614 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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