ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.699G>A (p.Gln233=)

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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 RCV003787535 SCV004576452 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004621904 SCV005114066 likely benign Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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