ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.2682+30_2682+31del

dbSNP: rs34274020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595998 SCV001829208 benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779257 SCV002015952 benign Freeman-Sheldon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779259 SCV002015963 benign Arthrogryposis, distal, type 2B3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779258 SCV002015974 benign Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779260 SCV002015985 benign Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-09-05 criteria provided, single submitter clinical testing

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