ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.744C>T (p.Pro248=)

gnomAD frequency: 0.00006  dbSNP: rs528073027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502549 SCV000593582 uncertain significance not specified 2016-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862610 SCV001003135 likely benign Bardet-Biedl syndrome 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274035 SCV001457740 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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