ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.12G>A (p.Ala4=)

dbSNP: rs754161831
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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 RCV001400686 SCV001602493 likely benign Bardet-Biedl syndrome 2023-06-04 criteria provided, single submitter clinical testing

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