ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1361-12T>C

gnomAD frequency: 0.00125  dbSNP: rs115337040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786112 SCV002027929 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Invitae RCV002074081 SCV002380003 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-27 criteria provided, single submitter clinical testing

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