ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.723+7G>A

gnomAD frequency: 0.00001  dbSNP: rs770220426
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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 RCV000869297 SCV001010714 likely benign Bardet-Biedl syndrome 2023-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272378 SCV001454314 likely benign Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908255 SCV004723616 likely benign BBS1-related disorder 2023-11-30 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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