ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.596G>A (p.Arg199His) (rs548424658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000211433 SCV000212188 uncertain significance Osler hemorrhagic telangiectasia syndrome 2015-03-11 criteria provided, single submitter research
Invitae RCV000211433 SCV000546105 likely benign Osler hemorrhagic telangiectasia syndrome 2017-12-28 criteria provided, single submitter clinical testing

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