ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.712-14T>A

gnomAD frequency: 0.00004  dbSNP: rs375598833
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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 RCV002112347 SCV002389926 likely benign Bardet-Biedl syndrome 2023-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499925 SCV002805754 likely benign Bardet-Biedl syndrome 4 2021-11-18 criteria provided, single submitter clinical testing

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