ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.-2T>G

gnomAD frequency: 0.00029  dbSNP: rs111296910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822584 SCV002065406 uncertain significance not specified 2021-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489883 SCV002791629 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-04-11 criteria provided, single submitter clinical testing
GeneDx RCV003325583 SCV004031758 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004536344 SCV004726290 likely benign BBS2-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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