ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.4956+32C>T

gnomAD frequency: 0.57288  dbSNP: rs4792008
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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 RCV000253815 SCV000308942 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610625 SCV001833995 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775717 SCV002014444 benign Freeman-Sheldon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775719 SCV002014445 benign Arthrogryposis, distal, type 2B3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775718 SCV002014446 benign Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775720 SCV002014447 benign Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-09-05 criteria provided, single submitter clinical testing

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