ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) (rs746113372)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565004 SCV000674446 likely benign Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000287876 SCV000405880 uncertain significance Carney complex 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345213 SCV000405881 uncertain significance Acrodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645615 SCV000767365 likely benign Carney complex, type 1 2017-11-17 criteria provided, single submitter clinical testing

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