ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.48-9C>A

gnomAD frequency: 0.00004  dbSNP: rs765571574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360947 SCV000345659 uncertain significance not provided 2016-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491811 SCV001696413 likely benign Bardet-Biedl syndrome 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957524 SCV004773115 likely benign BBS1-related disorder 2020-02-07 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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