ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)

gnomAD frequency: 0.00392  dbSNP: rs116262072
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152847 SCV000202243 benign not specified 2014-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000463844 SCV000563567 benign Bardet-Biedl syndrome 2025-02-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000152847 SCV002069886 benign not specified 2017-12-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152847 SCV002547754 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
New York Genome Center RCV002467603 SCV002764406 uncertain significance Bardet-Biedl syndrome 9 2021-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002467603 SCV002808934 likely benign Bardet-Biedl syndrome 9 2022-04-06 criteria provided, single submitter clinical testing

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