Submissions for variant NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)

gnomAD frequency: 0.00166  dbSNP: rs201738818

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000283906	SCV000343528	uncertain significance	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000283906	SCV001045530	likely benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000283906	SCV001783595	uncertain significance	not provided	2021-03-19	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000283906	SCV004137824	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DOCK6: BS2
PreventionGenetics, part of Exact Sciences	RCV003920151	SCV004745656	likely benign	DOCK6-related disorder	2022-04-28	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000283906	SCV001798755	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000283906	SCV001969317	likely benign	not provided		no assertion criteria provided	clinical testing