ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)

dbSNP: rs1567564042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Group, University of Otago RCV000714984 SCV000845785 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome 2018-04-09 criteria provided, single submitter clinical testing
OMIM RCV000785649 SCV000924284 pathogenic Contractures, pterygia, and variable skeletal fusions syndrome 1B 2020-02-27 no assertion criteria provided literature only

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