ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1554G>T (p.Leu518=)

gnomAD frequency: 0.00001  dbSNP: rs760568652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427781 SCV001630466 likely benign Bardet-Biedl syndrome 2023-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501514 SCV002806102 likely benign Bardet-Biedl syndrome 1 2021-10-18 criteria provided, single submitter clinical testing

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