ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.1581+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1350968647
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Group, University of Otago RCV000714983 SCV000845784 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome 2018-04-09 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199085 SCV001370080 likely pathogenic Arthrogryposis, distal, type 2B3 2019-12-02 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5.
OMIM RCV000785647 SCV000924282 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2020-02-27 no assertion criteria provided literature only

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