Submissions for variant NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)

gnomAD frequency: 0.17541  dbSNP: rs2306899

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116873	SCV000517559	benign	not specified	2015-12-22	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	RCV001519818	SCV001728757	benign	Hereditary spastic paraplegia 54	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519818	SCV001876593	benign	Hereditary spastic paraplegia 54	2021-07-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847679	SCV002104619	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001725969	SCV005264839	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116873	SCV000150947	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116873	SCV001958464	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001725969	SCV001966419	likely benign	not provided		no assertion criteria provided	clinical testing