ClinVar Miner

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

gnomAD frequency: 0.00801  dbSNP: rs112911897
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Total submissions: 7
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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
Invitae 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 2023-12-01 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
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

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