ClinVar Miner

Submissions for variant NM_002470.3(MYH3):c.3008C>T (p.Ala1003Val) (rs34088014)

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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 RCV000117666 SCV000151898 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000286876 SCV000400387 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339782 SCV000400388 likely benign Freeman-Sheldon syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117666 SCV000308918 benign not specified criteria provided, single submitter clinical testing

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