ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)

dbSNP: rs1064797304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488380 SCV000575391 likely pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199718 SCV001162582 pathogenic Leber congenital amaurosis 2020-01-09 criteria provided, single submitter research
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001293398 SCV001481991 likely pathogenic Retinitis pigmentosa 40 2021-02-10 no assertion criteria provided research

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