Submissions for variant NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)

gnomAD frequency: 0.00309  dbSNP: rs34644609

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988327	SCV001101356	likely benign	2-aminoadipic 2-oxoadipic aciduria	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000988327	SCV001137996	likely benign	2-aminoadipic 2-oxoadipic aciduria	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954705	SCV001147820	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DHTKD1: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000954705	SCV001157258	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000954705	SCV001798389	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001796329	SCV001926243	benign	not specified		no assertion criteria provided	clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	RCV000954705	SCV004175064	uncertain significance	not provided	2020-12-05	no assertion criteria provided	clinical testing