ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.459A>C (p.Gly153=)

gnomAD frequency: 0.00012  dbSNP: rs149945278
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000942214 SCV001088134 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832164 SCV002076106 likely benign Achromatopsia 2020-02-06 no assertion criteria provided clinical testing

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