ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.572G>A (p.Gly191Asp) (rs41322046)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755258 SCV000603444 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000200751 SCV000343678 benign not specified 2016-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000200751 SCV000250070 benign not specified 2016-04-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000295009 SCV000477344 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205223 SCV000477345 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205223 SCV000261828 benign Osler hemorrhagic telangiectasia syndrome 2017-07-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000200751 SCV000712066 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: High frequency
PreventionGenetics RCV000200751 SCV000302343 likely benign not specified criteria provided, single submitter clinical testing

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