ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.2506G>A (p.Val836Ile)

gnomAD frequency: 0.00011  dbSNP: rs200935357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000950839 SCV001097177 benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335080 SCV001528123 uncertain significance Adams-Oliver syndrome 2 2018-09-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003960616 SCV004785879 likely benign DOCK6-related disorder 2022-02-15 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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