ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)

dbSNP: rs1567553806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000785645 SCV000998862 uncertain significance Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2019-08-21 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Contractures, pterygia, and variable skeletal fusions syndrome 1A, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3.
OMIM RCV000785645 SCV000924280 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2020-02-27 no assertion criteria provided literature only

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