ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) (rs56080682)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756971 SCV000884976 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608064 SCV000733178 likely benign Hereditary hemorrhagic telangiectasia type 2 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000608064 SCV000745685 benign Hereditary hemorrhagic telangiectasia type 2 2016-04-24 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345356 SCV000379826 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing

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