Submissions for variant NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met)

dbSNP: rs2062988

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522637	SCV001732219	benign	2-aminoadipic 2-oxoadipic aciduria	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001647322	SCV001859532	benign	not provided	2020-11-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658230	SCV001876688	benign	Charcot-Marie-Tooth disease axonal type 2Q	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001522637	SCV001876689	benign	2-aminoadipic 2-oxoadipic aciduria	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001647322	SCV005323830	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529728	SCV001743685	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529728	SCV001917206	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529728	SCV001959959	benign	not specified		no assertion criteria provided	clinical testing