ClinVar Miner

Submissions for variant NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs)

dbSNP: rs1827340429
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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 RCV001199658 SCV001162446 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002275201 SCV002564052 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing

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