ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.-6C>G

gnomAD frequency: 0.01785  dbSNP: rs191800156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173583 SCV000224707 benign not specified 2016-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000173583 SCV000527130 benign not specified 2016-07-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000173583 SCV000613163 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710565 SCV005256609 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891705 SCV000316507 benign DOK7-related disorder 2020-02-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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