ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter)

dbSNP: rs1692904914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001270467 SCV001450757 pathogenic Achromatopsia 2 no assertion criteria provided research
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001270467 SCV001571284 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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