ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1311C>G (p.Thr437=)

gnomAD frequency: 0.00004  dbSNP: rs945847885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001405918 SCV001607862 likely benign Bardet-Biedl syndrome 2024-05-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820101 SCV002072403 likely benign not specified 2019-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493961 SCV002798568 likely benign Bardet-Biedl syndrome 4 2021-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749681 SCV005367106 likely benign BBS4-related disorder 2020-11-16 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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