ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2059+7C>G

gnomAD frequency: 0.00001  dbSNP: rs113740983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001423394 SCV001625972 likely benign Bardet-Biedl syndrome 2023-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973272 SCV004793723 likely benign BBS2-related condition 2021-07-21 criteria provided, single submitter 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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