ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.12C>T (p.Leu4=)

dbSNP: rs374456998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537321 SCV000656562 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093096 SCV001249919 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530576 SCV004730536 likely benign MUSK-related disorder 2020-08-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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