ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)

dbSNP: rs199570140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671490 SCV000796467 uncertain significance Achromatopsia 3 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531286 SCV003266575 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing

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