ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)

dbSNP: rs1761161294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268710 SCV001447839 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729832 SCV001976849 pathogenic Leber congenital amaurosis 15 2021-10-05 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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