ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter)

dbSNP: rs1400806789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199557 SCV001162703 pathogenic Central areolar choroidal dystrophy 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001093123 SCV001249953 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing

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