ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1626A>G (p.Pro542=)

gnomAD frequency: 0.00001  dbSNP: rs780444865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252168 SCV000314360 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000252168 SCV000593584 uncertain significance not specified 2016-04-14 criteria provided, single submitter clinical testing
Invitae RCV001455481 SCV001659241 likely benign Bardet-Biedl syndrome 2024-01-22 criteria provided, single submitter clinical testing

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