ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) (rs149664056)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864382 SCV001005175 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Mendelics RCV000988853 SCV001138744 benign Hereditary hemorrhagic telangiectasia type 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000864382 SCV001148749 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148355 SCV000190045 likely benign Haemorrhagic telangiectasia 2 2014-06-01 no assertion criteria provided research

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