ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.79dup (p.Cys27fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990461 SCV004807130 likely pathogenic Bardet-Biedl syndrome 8 2024-03-26 criteria provided, single submitter clinical testing

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