Submissions for variant NM_000797.4(DRD4):c.860A>C (p.Gln287Pro)

gnomAD frequency: 0.00174  dbSNP: rs769762387

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003239294	SCV003936856	uncertain significance	Hereditary attention deficit-hyperactivity disorder		criteria provided, single submitter	clinical testing	Potent mutations in Dopamine receptor uptake gene leads to decreased brain uptake of neuromodulator dopamine and are strongly associated with onset of Attention deficit hyperactivity disorder. However more evidence is required to confer the association of this particular rs769762387 with Attention deficit hyperactivity disorder.
Breakthrough Genomics, Breakthrough Genomics	RCV001573477	SCV005220866	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573477	SCV001799420	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726593	SCV001966957	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003931211	SCV004744104	benign	DRD4-related disorder	2020-07-03	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).