ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.312T>C (p.Gly104=)

gnomAD frequency: 0.00009  dbSNP: rs56181115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337999 SCV000476618 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556773 SCV000656587 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902422 SCV004720188 likely benign MUSK-related condition 2019-08-06 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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