ClinVar Miner

Submissions for variant NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV002468428 SCV002764257 likely pathogenic Maffucci syndrome criteria provided, single submitter research

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