ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1743C>T (p.His581=)

gnomAD frequency: 0.00001  dbSNP: rs61890368
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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) RCV000598276 SCV000707338 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV001479055 SCV001683346 likely benign Bardet-Biedl syndrome 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900344 SCV004716155 likely benign BBS1-related disorder 2022-04-01 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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