ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1278C>T (p.Pro426=)

gnomAD frequency: 0.00181  dbSNP: rs139468087
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320886 SCV000332205 uncertain significance not provided 2015-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081974 SCV000640941 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660540 SCV001880760 benign not specified 2021-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000320886 SCV002544857 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DOK7: BP4, BP7, BS2

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