ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.1960-17dup

dbSNP: rs3216884
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350907 SCV000400423 uncertain significance Freeman-Sheldon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280921 SCV000400424 uncertain significance Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280921 SCV000400427 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350907 SCV000400428 likely benign Freeman-Sheldon syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001572903 SCV001838281 benign not provided 2019-12-08 criteria provided, single submitter clinical testing
Invitae RCV001572903 SCV002386483 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572903 SCV001797993 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699451 SCV001922053 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572903 SCV001930541 likely benign not provided no assertion criteria provided clinical testing

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