ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4446C>T (p.Ser1482=)

gnomAD frequency: 0.00006  dbSNP: rs529459880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002127281 SCV002407828 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951118 SCV004763014 likely benign DOCK6-related disorder 2019-04-01 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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