ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.687G>A (p.Leu229=)

dbSNP: rs752374832
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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 RCV002071482 SCV002321697 likely benign Bardet-Biedl syndrome 2021-02-16 criteria provided, single submitter clinical testing

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