ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.712-15G>C

dbSNP: rs2065814889
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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 RCV002106559 SCV002434429 likely benign Bardet-Biedl syndrome 2024-05-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500169 SCV002809314 likely benign Bardet-Biedl syndrome 4 2022-04-23 criteria provided, single submitter clinical testing

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