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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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].
Ambry Genetics RCV004619464 SCV005112197 likely benign Inborn genetic diseases 2024-05-13 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.
PreventionGenetics, part of Exact Sciences RCV003960616 SCV004785879 likely benign DOCK6-related disorder 2022-02-15 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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