ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.332+8T>C

gnomAD frequency: 0.00001  dbSNP: rs1456405256
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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 RCV002152160 SCV002415165 likely benign Bardet-Biedl syndrome 2023-11-20 criteria provided, single submitter clinical testing
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago RCV003229082 SCV003926567 pathogenic Bardet-Biedl syndrome 1 2023-05-10 no assertion criteria provided research

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