ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.39C>G (p.Val13=)

gnomAD frequency: 0.04379  dbSNP: rs10188609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254056 SCV000316157 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000467258 SCV000563605 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing

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