ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)

gnomAD frequency: 0.00002  dbSNP: rs1311636142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550759 SCV000656592 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000550759 SCV002814764 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-04-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129918 SCV003817087 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing

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