ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.596G>A (p.Arg199His)

gnomAD frequency: 0.00004  dbSNP: rs548424658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000211433 SCV000212188 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2015-03-11 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000859173 SCV000546105 likely benign Hereditary hemorrhagic telangiectasia 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262803 SCV002546085 benign not provided 2022-06-01 criteria provided, single submitter clinical testing ENG: BS1, BS2

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