ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)

gnomAD frequency: 0.00001  dbSNP: rs544315396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001278004 SCV002815903 uncertain significance Bardet-Biedl syndrome 1 2021-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278004 SCV001464992 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700728 SCV001918735 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700728 SCV001973195 uncertain significance not provided no assertion criteria provided clinical testing

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