ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe)

gnomAD frequency: 0.00004  dbSNP: rs201881873
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 RCV001033961 SCV001197281 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272751 SCV001455010 uncertain significance Achromatopsia 2020-01-24 no assertion criteria provided clinical testing

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