ClinVar Miner

Submissions for variant NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr)

gnomAD frequency: 0.00218  dbSNP: rs149348765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000964219 SCV001111413 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV002468100 SCV002764255 likely pathogenic Enchondromatosis criteria provided, single submitter research

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