ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.5594C>T (p.Thr1865Ile)

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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 RCV003988920 SCV004805290 uncertain significance Floating-Harbor syndrome 2024-03-25 criteria provided, single submitter research

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