ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)

dbSNP: rs1554604849
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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 RCV000598180 SCV000700215 uncertain significance Achromatopsia 2018-03-20 criteria provided, single submitter research
Counsyl RCV000670705 SCV000795595 uncertain significance Achromatopsia 3 2017-11-09 criteria provided, single submitter clinical testing

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