ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1020C>G (p.Ser340=)

gnomAD frequency: 0.00470  dbSNP: rs35209408
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001726346 SCV005216523 likely benign not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV001272382 SCV002803098 likely benign Bardet-Biedl syndrome 1 2021-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001729715 SCV002068739 likely benign not specified 2020-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860921 SCV001001102 benign Bardet-Biedl syndrome 2025-01-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729715 SCV001978834 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726346 SCV001965603 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001272382 SCV001454318 benign Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing

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