ClinVar Miner

Submissions for variant NM_002470.3(MYH3):c.3138A>C (p.Arg1046=) (rs2285475)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117668 SCV000151900 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333596 SCV000400379 likely benign Freeman-Sheldon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385658 SCV000400380 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117668 SCV000308922 benign not specified criteria provided, single submitter clinical testing

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