Submissions for variant NM_018109.4(MTPAP):c.555+19C>T

gnomAD frequency: 0.25271  dbSNP: rs1047988

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126860	SCV000170389	benign	not specified	2013-09-06	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.
PreventionGenetics, part of Exact Sciences	RCV000126860	SCV000313157	benign	not specified		criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000608965	SCV000745036	benign	Spastic ataxia 4	2015-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608965	SCV002014280	benign	Spastic ataxia 4	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055684	SCV002427631	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002055684	SCV005317023	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608965	SCV000732938	benign	Spastic ataxia 4		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000126860	SCV001956270	benign	not specified		no assertion criteria provided	clinical testing