ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.531C>T (p.Gly177=)

dbSNP: rs113518488
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 RCV002181723 SCV002481220 likely benign Bardet-Biedl syndrome 2024-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496109 SCV002798606 likely benign Bardet-Biedl syndrome 9 2021-11-09 criteria provided, single submitter clinical testing

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