ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1172-15T>A

gnomAD frequency: 0.00006  dbSNP: rs375141011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401040 SCV000352794 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304813 SCV000352795 uncertain significance Pigmented paravenous retinochoroidal atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336321 SCV000352796 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491386 SCV001695977 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-24 criteria provided, single submitter clinical testing

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