ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1474-8C>T

gnomAD frequency: 0.00013  dbSNP: rs398124402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082203 SCV000114152 uncertain significance not provided 2013-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085650 SCV000636514 likely benign Bardet-Biedl syndrome 2023-12-27 criteria provided, single submitter clinical testing
New York Genome Center RCV002467564 SCV002764416 uncertain significance Bardet-Biedl syndrome 1 2022-09-16 criteria provided, single submitter clinical testing

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