ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.2103C>T (p.Asp701=)

gnomAD frequency: 0.00006  dbSNP: rs372208548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900646 SCV001044975 benign not provided 2023-04-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000900646 SCV004137845 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DOCK6: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003950560 SCV004760482 likely benign DOCK6-related disorder 2021-02-10 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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