ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.54+28G>T

dbSNP: rs772575255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444805 SCV001647816 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963158 SCV004785659 likely benign DOK7-related disorder 2022-04-06 no assertion criteria provided 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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