ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.1141+32G>A

gnomAD frequency: 0.57301  dbSNP: rs2239934
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254532 SCV000308902 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001660226 SCV001871792 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778832 SCV002016130 benign Freeman-Sheldon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778834 SCV002016131 benign Arthrogryposis, distal, type 2B3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778833 SCV002016132 benign Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778835 SCV002016133 benign Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-09-05 criteria provided, single submitter clinical testing

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