ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr)

gnomAD frequency: 0.00011  dbSNP: rs192568942
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 RCV001034154 SCV001197483 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272739 SCV001454997 uncertain significance Achromatopsia 2020-01-11 no assertion criteria provided clinical testing

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