Submissions for variant NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser)

gnomAD frequency: 0.00249  dbSNP: rs146741810

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000967704	SCV001115114	likely benign	2-aminoadipic 2-oxoadipic aciduria	2024-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001726398	SCV001473908	benign	not provided	2023-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726398	SCV002497019	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	DHTKD1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001726398	SCV005226916	likely benign	not provided		criteria provided, single submitter	not provided
Elsea Laboratory, Baylor College of Medicine	RCV000967704	SCV001424216	likely benign	2-aminoadipic 2-oxoadipic aciduria	2020-04-01	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699490	SCV001923289	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726398	SCV001963320	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003916242	SCV004731308	likely benign	DHTKD1-related disorder	2022-08-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).