ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.5570G>A (p.Arg1857His)

gnomAD frequency: 0.00442  dbSNP: rs73903079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516581 SCV001724879 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001516581 SCV004152656 benign not provided 2023-09-01 criteria provided, single submitter clinical testing CEP250: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003921125 SCV004732421 benign CEP250-related disorder 2019-10-16 criteria provided, single submitter 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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