ClinVar Miner

Submissions for variant NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)

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Total submissions: 2
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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 RCV002468421 SCV002764241 likely pathogenic Maffucci syndrome criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232988 SCV005879902 likely benign not provided 2024-11-14 criteria provided, single submitter clinical testing

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