ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)

dbSNP: rs1057518966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415334 SCV000493032 likely pathogenic Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development 2014-06-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198407 SCV001369339 likely pathogenic Fetal akinesia deformation sequence 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Revvity Omics, Revvity RCV003129855 SCV003817125 uncertain significance not provided 2021-10-04 criteria provided, single submitter clinical testing

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