ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)

gnomAD frequency: 0.00014  dbSNP: rs189261750
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593527 SCV000702656 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593527 SCV001409446 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000593527 SCV001790735 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817794 SCV005073220 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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