ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.489A>G (p.Ala163=)

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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 RCV003524025 SCV004365164 likely benign Bardet-Biedl syndrome 2023-12-27 criteria provided, single submitter clinical testing

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