ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.658+1G>A

dbSNP: rs387906272
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000002139 SCV002518972 pathogenic Leber congenital amaurosis 13 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000002139 SCV004208602 pathogenic Leber congenital amaurosis 13 2023-05-27 criteria provided, single submitter clinical testing
OMIM RCV000002139 SCV000022297 pathogenic Leber congenital amaurosis 13 2004-10-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003155 SCV001161226 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000002139 SCV001432292 pathogenic Leber congenital amaurosis 13 no assertion criteria provided research

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