ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.472-10T>C

gnomAD frequency: 0.00049  dbSNP: rs138714256
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862236 SCV001002715 likely benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579356 SCV005216487 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579356 SCV001806908 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701325 SCV001925510 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579356 SCV001927794 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579356 SCV002038275 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830864 SCV002089303 likely benign Bardet-Biedl syndrome 2 2020-02-12 no assertion criteria provided clinical testing

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