ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.699C>T (p.Pro233=)

gnomAD frequency: 0.00001  dbSNP: rs777250313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002172648 SCV002336334 likely benign Bardet-Biedl syndrome 2023-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744232 SCV005349438 likely benign BBS1-related disorder 2022-04-27 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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