ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.468C>T (p.Ser156=)

gnomAD frequency: 0.00001  dbSNP: rs1442224621
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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 RCV002542935 SCV003010333 likely benign not provided 2022-09-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279844 SCV001466975 uncertain significance Achromatopsia 2020-08-13 no assertion criteria provided clinical testing

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