ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) (rs756795016)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226180 SCV000288871 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379511 SCV000409105 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287385 SCV000409106 uncertain significance Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340035 SCV000409107 uncertain significance Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573053 SCV000671975 likely benign Hereditary cancer-predisposing syndrome 2015-08-14 criteria provided, single submitter clinical testing
Color RCV000573053 SCV000686527 likely benign Hereditary cancer-predisposing syndrome 2017-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000613346 SCV000730042 benign not specified 2015-08-11 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.

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