ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.640G>A (p.Gly214Ser) (rs150932144)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859971 SCV000546132 likely benign Hereditary hemorrhagic telangiectasia 2020-11-12 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000457880 SCV000883141 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2018-11-21 criteria provided, single submitter clinical testing
Mendelics RCV000457880 SCV001137909 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000457880 SCV001530111 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2018-04-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with hemorrhagic telangiectasia [PMID 16754821] and pulmonary arterial hypertension [PMID: 23298310]
CSER _CC_NCGL, University of Washington RCV000148487 SCV000190190 uncertain significance Haemorrhagic telangiectasia 1 2014-06-01 no assertion criteria provided research
Medical & Molecular Genetics Group,University of Lincoln RCV000488867 SCV000576352 pathogenic Primary pulmonary hypertension 1 no assertion criteria provided literature only

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