ClinVar Miner

Submissions for variant NM_001195305.3(BBIP1):c.110A>G (p.Gln37Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990905 SCV004807981 uncertain significance Bardet-Biedl syndrome 18 2024-03-29 criteria provided, single submitter clinical testing

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