ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.534-44T>C

gnomAD frequency: 0.63169  dbSNP: rs1989810
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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 RCV000241635 SCV000308948 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640524 SCV001860457 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778853 SCV002016143 benign Freeman-Sheldon syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778855 SCV002016144 benign Arthrogryposis, distal, type 2B3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778854 SCV002016145 benign Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778856 SCV002016147 benign Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-09-05 criteria provided, single submitter clinical testing

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