Submissions for variant NM_001160148.2(DDHD1):c.354C>T (p.His118=)

gnomAD frequency: 0.73414  dbSNP: rs2358188

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421659	SCV000517557	benign	not specified	2015-12-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513929	SCV001721635	benign	Hereditary spastic paraplegia 28	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001513929	SCV001876590	benign	Hereditary spastic paraplegia 28	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715141	SCV005295528	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000421659	SCV001743733	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000421659	SCV001953134	benign	not specified		no assertion criteria provided	clinical testing