ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.392C>T (p.Pro131Leu) (rs139398993)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148486 SCV000190189 uncertain significance Haemorrhagic telangiectasia 1 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178045 SCV000230031 benign not specified 2015-02-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178045 SCV000594548 likely benign not specified 2016-08-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346221 SCV000477348 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000346221 SCV000557862 benign Osler hemorrhagic telangiectasia syndrome 2017-12-25 criteria provided, single submitter clinical testing

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