ClinVar Miner

Submissions for variant NM_002470.3(MYH3):c.3938C>T (p.Thr1313Ile) (rs35230241)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224960 SCV000281228 benign not provided 2015-10-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117672 SCV000151904 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 RCV000374471 SCV000400343 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282552 SCV000400344 likely benign Freeman-Sheldon syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117672 SCV000308931 likely benign not specified criteria provided, single submitter clinical testing

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