ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp)

dbSNP: rs375795507
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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 RCV000664196 SCV000678427 uncertain significance Achromatopsia 2017-12-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002506388 SCV002814699 uncertain significance Cone dystrophy 4 2022-03-23 criteria provided, single submitter clinical testing

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