Submissions for variant NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met)

gnomAD frequency: 0.00411  dbSNP: rs147554257

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443889	SCV000511130	likely benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000443889	SCV001049294	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000443889	SCV001789297	likely benign	not provided	2020-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443889	SCV004698737	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DOCK6: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000443889	SCV005209424	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000443889	SCV001800231	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727712	SCV001973371	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957898	SCV004767086	benign	DOCK6-related disorder	2022-03-11	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).