ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.124+11G>A

gnomAD frequency: 0.00001  dbSNP: rs1479928467
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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 RCV003635078 SCV004499504 likely benign Bardet-Biedl syndrome 2023-02-22 criteria provided, single submitter clinical testing

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