Submissions for variant NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys)

gnomAD frequency: 0.00801  dbSNP: rs112911897

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	RCV000514528	SCV000610039	likely benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514528	SCV001111142	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000514528	SCV001906641	benign	not provided	2019-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514528	SCV002585704	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	DOCK6: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002506242	SCV002807702	likely benign	Adams-Oliver syndrome 2	2021-11-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514528	SCV005209427	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514528	SCV001799311	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000514528	SCV001920427	likely benign	not provided		no assertion criteria provided	clinical testing