ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1181-6C>T

gnomAD frequency: 0.00001  dbSNP: rs368445790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873006 SCV001014923 likely benign Bardet-Biedl syndrome 2023-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908290 SCV004736917 likely benign BBS1-related condition 2022-11-14 criteria provided, single submitter 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).
Natera, Inc. RCV001274038 SCV001457743 uncertain significance Bardet-Biedl syndrome 1 2020-03-10 no assertion criteria provided clinical testing

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