ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.859T>G (p.Phe287Val)

dbSNP: rs1567560080
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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 RCV000785646 SCV000998861 likely pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2019-08-21 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Contractures, pterygia, and variable skeletal fusions syndrome 1A, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM1, PM6.
OMIM RCV000785646 SCV000924281 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2020-02-27 no assertion criteria provided literature only

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