ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.886+7A>G

gnomAD frequency: 0.00001  dbSNP: rs781169371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228669 SCV003925396 uncertain significance Bardet-Biedl syndrome 9 2022-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633696 SCV004525677 likely benign Bardet-Biedl syndrome 2024-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747278 SCV005347600 likely benign BBS9-related disorder 2020-11-13 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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