ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) (rs3730349)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229742 SCV000287684 benign Carney complex, type 1 2017-08-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247351 SCV000309155 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315884 SCV000405872 likely benign Acrodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354275 SCV000405873 likely benign Carney complex 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247351 SCV000514271 likely benign not specified 2017-11-06 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.
Ambry Genetics RCV000568769 SCV000664950 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing

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