ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1287T>C (p.Ser429=)

gnomAD frequency: 0.00258  dbSNP: rs17006094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891989 SCV000316220 benign BBS12-related condition 2020-11-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Invitae RCV000861638 SCV001002011 benign Bardet-Biedl syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000254113 SCV002071106 likely benign not specified 2021-07-23 criteria provided, single submitter clinical testing

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