ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.819T>C (p.Ser273=)

gnomAD frequency: 0.00001  dbSNP: rs550992948
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411234 SCV001613293 likely benign Bardet-Biedl syndrome 2024-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825745 SCV002089292 likely benign Bardet-Biedl syndrome 2 2020-02-03 no assertion criteria provided clinical testing

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