ClinVar Miner

Submissions for variant NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)

gnomAD frequency: 0.00305  dbSNP: rs76025186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892508 SCV001036381 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000892508 SCV001801486 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003950405 SCV004772385 benign CYP26B1-related disorder 2024-06-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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