ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.588-9A>G

gnomAD frequency: 0.00001  dbSNP: rs553655236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433911 SCV001636708 likely benign Bardet-Biedl syndrome 2023-09-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580127 SCV001809773 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580127 SCV001974829 likely benign not provided no assertion criteria provided clinical testing

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