ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.207-20T>C

gnomAD frequency: 0.04718  dbSNP: rs71501643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246882 SCV000311133 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246882 SCV000513727 benign not specified 2016-05-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002058192 SCV002404340 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-02-01 criteria provided, single submitter clinical testing

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