ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.105A>T (p.Ser35=)

gnomAD frequency: 0.00156  dbSNP: rs35159397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638384 SCV000759889 benign Bardet-Biedl syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816582 SCV002071102 benign not specified 2021-03-29 criteria provided, single submitter clinical testing

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