ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.222A>C (p.Pro74=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003040717 SCV003348629 likely benign Bardet-Biedl syndrome 2022-05-02 criteria provided, single submitter clinical testing

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