ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.858C>T (p.Ile286=)

gnomAD frequency: 0.00006  dbSNP: rs746775716
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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) RCV000593860 SCV000708155 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV001455889 SCV001659658 likely benign Bardet-Biedl syndrome 2023-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935622 SCV004752503 likely benign BBS1-related disorder 2019-09-14 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).

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