ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)

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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 RCV003983750 SCV004708221 pathogenic BNAR syndrome 2024-02-11 criteria provided, single submitter research

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