ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.768G>A (p.Ala256=)

gnomAD frequency: 0.00001  dbSNP: rs767128005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045301 SCV001209142 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832432 SCV002076094 uncertain significance Achromatopsia 2020-02-21 no assertion criteria provided clinical testing

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